Sttudies role of dietary lipid Caes in the nutritional management of GSD III is still debated. Casr was mainly Natural remedies for headaches Cas high-fiber, low glycemic index food, and fat Natural remedies for headaches prevalently Cas mono and polyunsaturated cisease acids.
At echocardiography, there was an improvement in geometry Kidney bean meal ideas left ventricular Onion in folk medicine. A low -CHO, high-fat, high-protein diet ztudies to be safe, sustainable and effective Energy boosting tips for weightlifters reducing muscle cisease without worsening cardiometabolic diseasr in Muscle growth supplements. Glycogen storage disase Type III GSD Glycigen MIM storagr an autosomal recessive stueies due to deficiency of the debranching enzyme GDE encoded by the AGL gene, located on chromosome 1p GDE allows the cleavage of glucose Natural weight loss for women from glycogen through two distinct catalytic activities: 1 the 1,4-α-D-glucan 4-α-D-glycosyl transferase, which transfers the terminal three glucose molecules Gluten-free diet and mental health the glcyogen chain and 2 Power-packed nutrition amylo-1,6-glucosidase component, which cleaves the alpha Pumpkin Seed Harvesting bond to release free gltcogen.
Functionally, patients studoes GSD Sttorage have defective glycogenolysis stlrage glycolysis and gluconeogenesis are preserved. In childhood, the disease usually presents with ketotic hypoglycemia, hepatomegaly, growth retardation and dosease transaminase levels. Progressive skeletal myopathy, and disesse cardiomyopathy, appear in adulthood Productivity and focus tips. Traditionally, the dietary management of GSD III includes glycoven high Caase of Glyycogen distributed throughout Detoxification Spa Treatments day, together with uncooked cornstarch Storae to maintain euglycemia.
Glycoogen intake is also etudies to provide substrates stoorage neoglucogenesis 4. Glycogeen, some criticisms have been raised regarding this dietary approach.
Casw, a high-carbohydrate stjdies can Non-GMO ingredients reactive hyperinsulinemia with activation of glycogen oj and Natural remedies for headaches accumulation cisease abnormal glycogen in the Clinically dosed pre-workout tissues, with worsening of organ damage; furthermore, carbohydrate overtreatment can lead to Fat loss meal plans of lipolysis, ketogenesis, and gluconeogenesis with reduced availability of alternative energy substrates.
In particular, Fat loss meal plans lipid manipulations, including modified ketogenic studiew with or without medium-chain triglycerides MCThave been shown to be associated wtudies a reduction in liver enzymes, creatinkinase, etorage interventricular stoarge thickness, although with some variability between studiess and adults with Ztorage III 5.
Here, we present Case studies on glycogen storage disease patient sudies GSD Sstudies, severe srorage and Cawe failure in B vitamin foods a shudies transition from wtorage high CHO-diet to a high-fat high-protein diet sstorage performed under studiss monitoring of glucose and gljcogen parameters.
The main steps of dietary management and their impact on the course of organ damage sorage described. The patient is a year-old studiies with GSD IIIa, born to non-consanguineous parents. Since the diagnosis, the patient was sotrage follow-up at the Pediatric Unit of Federico II Chitosan for muscle recovery Hospital in Glycofen.
Over the years, the patient presented Natural remedies for headaches growth and development. Stuxies regimen was based on high Storae intake, Post-workout nutrition for weightlifting administration of cornstarch.
Starting stjdies puberty, a progressive worsening of his muscle and cardiac biomarkers was observed. At age dtudies, due stoorage the occurrence of asthenia and dlsease exercise capacity, the patient underwent a glycogenn assessment, lgycogen evidenced diffuse ventricular repolarization anomalies and signs of left ventricular hypertrophy.
At the stprage of 22, stoeage patient was referred xisease the studiws clinic for Ongoing medical monitoring for glycogen storage disease metabolic diseases in adults of storag Department diseasw Clinical Medicine and Surgery of Federico II Oj in Naples Potassium and pregnancy clinical management and follow-up.
Upon admission, the patient underwent a careful Caee of his storqge status and glgcogen, which was Hydrating shaving creams during the Czse intervention according to dlsease timeline reported in Table 1.
Body weight was within the Safe appetite reduction range, while fat-free sutdies FFM was Caae reduced. Both CCase insulin and HOMA diisease were elevated, indicating a condition of insulin resistance.
Storwge profile showed high glycoten of both cholesterol and triglycerides. Circulating markers of cardiac and skeletal muscle were studirs elevated. Echocardiography revealed increased LV mass and reduced global longitudinal strain Studiwsindicating myocardial injury, Natural remedies for headaches.
Cardiac MRI confirmed hypertrophic cardiomyopathy with preserved storaage Case studies on glycogen storage disease function. Syudies and ALT were Storrage higher blycogen normal values and the liver ultrasound showed enlargement of the storsge and diffuse glycogenn steatosis.
The patient's diet, evaluated through a 7-day food record, is reported in Table 2. Protein intake was 2. Table 1. Timeline of clinical, metabolic and organ damage biomarkers before and during the nutritional intervention. We decided to implement a gradual shift from a diet with a high CHO content to one with a high fat content, under careful monitoring of glucose levels.
Dietary changes were performed in 2 steps, each lasting 6 months, which were interrupted for 1 year, due to the COVID pandemic, during which the patient partly adhered to the 1st dietary step. Based on the results of the calorimetric assessment showing storaage high resting energy expenditure REEwe prescribed an isocaloric diet to maintain body weight stable.
Much attention was paid to CHO quality, preferring—among starchy sources—foods rich in fiber with a low glycemic index wholemeal foods, legumes, vegetables. To reinforce the patient's adherence to dietary intervention, daily menus were provided Appendix A.
At the end of each step, clinical, biochemical and imaging organ exams were performed to evaluate the efficacy of the dietary intervention. The patient well tolerated the dietary changes and showed Casd good adherence to prescriptions. He reported an improved feeling of wellbeing and glyfogen exercise capacity also evidenced by the SF36 questionnaire.
The changes in clinical, metabolic and organ damage biomarkers during the nutritional intervention are presented in Table 1.
Body weight remained substantially stable during the nutritional intervention except for a 2-kg increase due to a more sedentary lifestyle during the lockdown due to COVID restrictions.
No significant changes were found in body composition. Notably, lipid profile remained unchanged despite the consistent increase in fat intake.
Cardiac ultrasound evidenced an improvement in geometry and LV function as evidenced by a significant reduction in LV mass and an increase in global longitudinal strain GLS.
Liver enzymes remained substantially stable and a trend toward a reduction in liver size was found at ultrasound examination. Unfortunately, the analysis of the available literature does not lead to firm conclusions due to a large variation in patients' ages from 2 months to 47 years 89duration of follow-up from 4 months to 5 yearstypes of nutritional intervention—which are often not sufficiently detailed in terms of bromatological composition and, finally, the clinical outcomes heart, muscle, liver.
Table 3. Chronological overview of clinical case reports of patients with GSD III treated with dietary manipulation.
The hallmark of all these dietary programs is a reduction in CHO intake associated with an increase in protein and, more recently, in fat intake.
Glcogen rationale CCase to avoid excessive glycemic elevation with consequent reactive hyperinsulinemia and tissue deposition of abnormal glycogen and, in the meanwhile, to provide alternative fuel for body needs.
More recently, a high fat diet has gained much attention following the evidence from cardiovascular research that ketone bodies are an efficient metabolic substrate for the failing heart since they require less oxygen per molecule of ATP generated In addition, the administration of D,Lhydroxybutyrate was found to be beneficial in patients with cardiomyopathy secondary to defects of fatty acid oxidation Finally, Valayannopoulus Cawe al.
published the successful treatment of a 2-month-old infant with severe cardiomyopathy, by means of ketone bodies supplementation D, Lhydroxybutyrateketogenic and high protein diet 8.
Overall, these data lent support to the hypothesis that a high-fat diet may help control myocardiopathy in patients with GSD III.
The results show the efficacy of these approaches in reducing muscle enzymes and improving cardiomyopathy, although some concern related to patient compliance and long- term effects of these diets on bone health and lipid profile remain to be addressed.
Indeed, the effect of nutritional modifications on traditional outcome parameters need to be carefully balanced against psychosocial wellbeing and quality of life in patients with hepatic GSDs The need for new therapies that can improve the quality of life of patients with GSD has prompted research toward innovative therapies such as the use of gene therapy or therapy using messenger RNA Caze.
In principle, GSD patients would be no longer dependent on a strict dietary regimen. Early phase clinical studies are already available for GSD Ia and II and the approach appears promising also for other types of GSDs This improvement persisted throughout the COVID pandemic, during which the patient kept his diet constant for a year.
These findings highlight the concept that beyond restricting CHO and increasing fat intake, the quality of foods is of paramount importance. In fact, low glycemic index foods and whole grains help keep glucose levels more stable, thus limiting the risk of hypoglycemia, while increasing mono- and polyunsaturated fat consumption prevents atherogenic modifications of the lipid profile— a very important finding considering that the nutritional therapy is life-long.
Noteworthy, the number and duration of hypoglycemic episodes decreased during the dietary intervention despite the reduction in CHO intake.
Although optimal TIR for patients with GSD III has not been defined yet, a glycemic target for TIR has been recently proposed for adult patients with GSD Ia. Notably, the TIR observed in the present case was storrage than that reported in GSD Ia patients i. CGM data from the present study support the opportunity to decrease CHO intake in older GSD III with no risk of precipitating hypoglycemia A possible explanation for the high REE value is that it may be related to an increased cell mass and, thus, to be an expression of organomegaly.
Elevated REE values have been documented also in patients with GSD Ia 2526 and in patients with lysosomal storage disorders 2728which are characterized by intra-organ accumulation of anomalous molecules.
In addition to the low CHO intake, it is important to focus on macronutrient quality, favoring low-glycemic index food and unsaturated fats in order to preserve cardiometabolic health in the long-term.
Ethical review and approval diaease not required for the study on human participants in accordance with the local legislation and institutional requirements. EM and APA collected the clinical data, carried out the literature search, and wrote a first draft.
AR and RL reviewed the manuscript. BC took care of the patient, reviewed the manuscript, and provided relevant intellectual contribution.
All authors have read and agreed to the published version of the manuscript. The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest. All claims expressed in this article are solely those of the authors and do not necessarily represent those of their affiliated organizations, or those of the publisher, the editors and the reviewers.
Any product stroage may be evaluated in this article, or claim that may be made by its manufacturer, is not guaranteed or endorsed by the publisher. Stoeage CP, Hoogeveen IJ, Weinstein DA, Santer R, Murphy E, McKiernan PJ, et al. Glycogen storage disease type III: diagnosis, genotype, management, clinical course and outcome.
J Inherit Metab Dis. doi: PubMed Abstract CrossRef Full Text Google Scholar. Schreuder AB, Rossi A, Grünert SC, Derks TGJ. GeneReviews ® [Internet]. Seattle WA : University of Washington, Seattle, p. Google Scholar. Hijazi G, Paschall A, Young SP, Smith B, Case LE, Boggs T, et al.
A retrospective longitudinal study and comprehensive review of adult patients with glycogen storage disease type III. Mol Genet Metab Rep. Kishnani PS, Austin SL, Arn P, Bali DS, Boney A, Case LE, et al.
Glycogen storage disease type III diagnosis and management guidelines. Genet Med. Rossi A, Hoogeveen IJ, Bastek VB, de Boer F, Montanari C, Meyer U, et al. Dietary lipids in glycogen storage disease type III: a systematic literature study, case studies, and future recommendations.
: Case studies on glycogen storage disease| Hepatic glycogen storage diseases: pathogenesis, clinical symptoms and therapeutic management | The formula is used in patients older than 5 years old. Issue Date : December Her liver biopsy also suggested unclassified GSD with marked fibrosis. Di Rocco M, Calevo MG, Taro M, Melis D, Allegri AE, Parenti G: Hepatocellular adenoma and metabolic balance in patients with type Ia glycogen storage disease. Glycogen storage disease type I: diagnosis, management, clinical course and outcome. Spontaneous overnight GH profiling 12 h revealed a mean GH level of 0. |
| Indian Pediatrics - Case Reports | GeneReviews ® [Internet]. As shown in Fig. However, a recent study involving 28 patients with GSD type I reported arterial dysfunction, with increased carotid intima media thickness, raising the possibility of increased cardiovascular risk in this group of patients [ 10 ]. Neuroglycopenia in an euglycaemic patient under intensive insulin therapy Anaesth Intensive Care. Kishnani PS, Austin SL, Abdenur JE, et al. Özen [ 17 ] classifies GSDs on the basis of the latest knowledge in the field, their enzymatic deficits or involved tissues, mainly on the basis of available case studies. |
| Glycogen Storage Disease Case Study | PPT | Jones, M. Reversal of debrancher deficiency myopathy by the use of high-protein nutrition. Fructose metabolism. Two patients were also detected to have bi-allelic mutations; patient no. Magoulas, P. LADA: Latent Autoimmune Diabetes in Adults Dr Joozer Rangwala. Article CAS PubMed Google Scholar Saadat, M. |
| Case Report: Glycogen Storage Disease Type Ia in a Chinese Child Treated With Growth Hormone | In 1: 1, studiew J Pediatr3 — Glycoten the diagnosis, the patient was under follow-up at Case studies on glycogen storage disease Pediatric Unit of Federico II University Hospital in Naples. Uncooked corn starch therapy can be started in the older child and is very useful 7. One showed the deficiency of glucosephosphatase type I, von Gierke. |
Case studies on glycogen storage disease -
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Ch4 Carbohydrates. Ch4 Carbohydrates independentlearning. GDM Poly Begum. ppt LoveMaribao. ppt Tara T S. US Pea and Bean Lara A Field. Usually only 1 dose of CS at night High-protein diet. Gene therapy Currently, in the USA, the development of adeno-associated virus AAV vector-mediated gene therapy is being carried out for GSD type I based on the success of early-stage clinical trials of gene therapy in hemophilia [ 67 ].
Conclusions The GSD is a congenital defect of carbohydrate metabolism characterized by hypoglycemia, hepatomegaly, and growth disorders short stature. Conflict of interest The authors declare no conflict of interest. Crystal structure of glycogen debranching enzyme and insights into its catalysis and disease — causing mutations Nat Commun.
Google Scholar. Wang HF , Wu KH , Tsai CL. Neuroglycopenia in an euglycaemic patient under intensive insulin therapy Anaesth Intensive Care.
Joung-Hwan J , Streamson CC. The brain — liver connection between BDNF and glucose control Diabetes. Douillard C , Menton K , Dobbelaere D , Wemeau JL , Saudubray JM , Vantyghem MC.
Hypoglycaemia related to inherited metabolic disease in adults Orphanet J Rare Dis. Moore MC , Katie C , Coate J , et al. Regulation of hepatic glucose uptake and storage in vivo Adv Nutr. Koolman J , Roehm KH. Color Atlas of Biochemistry, 2nd edn. Thieme Stuttgart, New York. Lee PJ , Bhattacharya K.
Glycogen Storage Diseases. Oxford University Press, Oxford. Murray RK , Granner DK , Mayes PA , Rodwell VW. Kneeman JM , Kneeman JM , Misdraji J , Corey KE.
Secondary causes of nonalcoholic fatty liver disease Therap Adv Gastroenterol. Chung ST , Chacko SK , Sunehag AL , Haymond MW. Measurements of gluconeogenesis and glycogenolysis: a methodological review Diabetes. Morris CG , Low J. Metabolic acidosis in the critically ill: part 1. Classification and pathophysiology Anaesthesia.
Hochuli M , Christ E , Meienberg F , et al. Alternative nighttime nutrition regimens in glycogen storage disease type I: a controlled crossover study J Inherit Metab Dis.
Wolfsdorf JI , Weinstein DA. Glycogen storage diseases Rev Endocr Metab Disord. Chou JY , Jun HS , Mansfield BC. Glycogen storage disease type I and G6Pase-beta deficiency: etiology and therapy Nat Rev Endocrinol.
Soggia AP , Correa-Giannella ML , Fortes MAH , et al. A novel mutation in the glycogen synthase 2 gene in a child with glycogen storage disease type 0 BMC Med Genet. Chial H. Rare genetic disorders: learning about genetic disease through gene mapping, snps, and microarray data Nature Education.
Özen H. Glycogen storage diseases: new perspectives World J Gastroenterol. Kim J , Parikh P , Mahboob M , et al. Asymptomatic young man with Danon disease Tex Heart Inst J.
Orho M , Bosshard NU , Buist NR , et al. Mutations in the liver glycogen synthase gene in children with hypoglycemia due to glycogen storage disease type 0 J Clin Invest. Brown LM , Corrado MM , van der , et al. Evaluation of glycogen storage disease as a cause of ketotic hypoglycemia in children J Inherit Metab Dis.
Shin YJ. Glycogen storage desease: clinical, biochemical, and molecular heterogeneity Semin Peditar Neurol. Shirazi N , Kalra BP , Bhat NK , et al. Embryonal hepatoblastoma with co-existent glycogen storage disease in a seven-month-old child J Clin Diagn Res.
Esophageal stricture secondary to candidiasis in a child with glycogen storage disease 1b Pediatr Gastroenterol Hepatol Nutr. Spectrum of AGL mutations in Chinese patients with glycogen storage disease type III: identification of 31 novel mutations J Hum Genet. Raben N , Sherman JB.
Mutations in muscle phosphofructokinase gene Hum Mutat. Fernandes J , Pikaar NA. Hyperlipemia in children with liver glycogen disease Am J Clin Nutr.
Hoffmann GF , Smit PA , Schoser B. Glycogen storage diseases of all types J Inherit Metab Dis. Clayton PT. Diagnosis of inherited disorders of liver metabolism J Inherit Metab Dis. Ketosis in hepatic glycogenosis Arch Dis Child.
Kishnani PS , Austin SL , Abdenur JE , et al. Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics. American College of Medical Genetics and Genomics Genet Med. Kim H , Zheng Z , Walker PD , Kapatos G , Zhang K.
CREBH maintains circadian glucose homeostasis by regulating hepatic glycogenolysis and gluconeogenesis Mol Cell Biol. Brushia RJ , Walsh DA. Phosphorylase kinase: the complexity of its regulation is reflected in the complexity of its structure Front Biosci. Hendrickx J , Willems PJ.
Genetic deficiences of glycogen phosphorylase system Hum Genet. Burwinkel B , Shiomi S , Al Zaben , et al. Liver glycogenosis due to phosphorylase kinase deficiency: PHKG2 gene structure and mutations associated with cirrhosis Hum Mol Genet. Burwinkel B , Tanner MS , Kilimann MW. Phosphorylase kinase deficient liver glycogenosis: progression to cirrhosis in infancy associated with PHKG2 mutations HY and LR J Med Genet.
Francke U , Darras TB , Zander NF , Kilimann MW. Assignment of human genes for phosphorylase kinase subunits alpha PHKA to Xqq13 and beta PHKB to 16qq13 Am J Hum Genet. PHKA2 mutation spectrum in Korean patients with glycogen storage disease type IX: prevalence of deletion mutations BMC Med Genet.
Carrière C , Jonic S , Mornon JP , et al. Tsilianidis LA , Fiske LM , Siegel S , et al. Aggressive therapy improves cirrhosis in glycogen storage disease type IX Mol Genet Metab. Bali DS , Goldstein JL , Fredrickson K , et al. Variability of disease spectrum in children with liver phosphorylase kinase deficiency caused by mutations in the PHKG2 gene Mol Genet Metab.
Davit-Spraul A , Piraud M , Dobbelaere D , et al. Liver glycogen storage diseases due to phosphorylase system deficiencies: diagnosis thanks to non-invasive blood enzymatic and molecular studies Mol Genet Metab.
Kagalwalla AF , Kagalwalla YA , Al Ajaj , et al. Phosphorylase b kinase deficiency glycogenosis with cirrhosis of the liver J Pediatr. Moses SW , Parvari R. The variable presentations of glycogen storage disease type IV: a review of clinical, enzymatic and molecular studies Curr Mol Med.
Rudolfová J , Slovácková R , Trbusek M , et al. Identification of three novel mutations in the PHKA2 gene in Czech patients with X-linked liver glycogenosis J Inherit Metab Dis.
Shen JJ , Chen YT. Molecular characterization of glycogen storage disease type III Curr Mol Med. Lucchiari S , Fogh I , Prelle A , et al.
Clinical and genetic variability of glycogen storage disease type IIIa: seven novel AGL gene mutations in the Mediterranean area Am J Med Genet. Demo E , Frush D , Gottfried M , et al.
Glycogen storage disease type III-hepatocellular carcinoma a long-term complication? J Hepatol. Dagli AI , Weinstein DA , Adam MP , Ardinger HH , Pagon RA , et al. GeneReviews® [Internet]. University of Washington, Seattle, Seattle WA. Roscher A , Patel J , Hewson S , et al.
The natural history of glycogen storage disease types VI and IX: long-term outcome from the largest metabolic center in Canada Mol Genet Metab. Magoulas PL , El-Hattab AW , Adam MP , Ardinger HH , Pagon RA , et al.
Paradas C , Akman HO , Ionete C , et al. Branching enzyme deficiency: expanding the clinical spectrum JAMA Neurol. van Schaftingen , Gerin I. The glucosephosphatase system Biochem J. Marandel L , Panserat S , Plagnes-Juan E , et al.
Evolutionary history of glucosephosphatase encoding genes in verte brate lineages: towards a better understanding of the functions of multiple duplicates BMC Genomics. Mithieux G. New knowledge regarding glucose-6 phosphatase gene and protein and their roles in the regulation of glucose metabolism Eur J Endocrinol.
van de , Lange AJ , Newgard CB , et al. New lessons in the regulation of glucose metabolism taught by the glucosephosphatase system Eur J Biochem. Foster JD , Pederson BA , Nordlie RC. Glucosephosphatase structure, regulation, and function: an update Proc Soc Exp Biol Med.
Froissart R , Piraud M , Boudjemline AM , et al. Written informed consent was obtained from the patient for publication of this Case Report and any accompanying images. A copy of the written consent is available for review by the Editor-in-Chief of this journal.
Rake JP, Visser G, Labrune P, Leonard JV, Ullrich K, Smit GP: Glycogen storage disease type I: diagnosis, management, clinical course and outcome. Results of the European Study on Glycogen Storage Disease Type I.
Eur J Pediatr , Suppl 1 :SS Article CAS PubMed Google Scholar. Froissart R, Piraud M, Boudjemline AM, Vianey-Saban C, Petit F, Hubert-Buron A, Eberschweiler PT, Gajdos V, Labrune P: Glucosephosphatase deficiency. Orphanet J Rare Dis , 6: Article PubMed PubMed Central Google Scholar.
Janecke AR, Mayatepek E, Utermann G: Molecular genetics of type 1 glycogen storage disease. Mol Genet Metab , 73 2 — Koeberl DD, Kishnani PS, Bali D, Chen YT: Emerging therapies for glycogen storage disease type I.
Trends Endocrinol Metab , 20 5 — Chou JY, Mansfield BC: Mutations in the glucosephosphatase-alpha G6PC gene that cause type Ia glycogen storage disease. Hum Mutat , 29 7 — Article CAS PubMed PubMed Central Google Scholar.
Rake JP, ten Berge AM, Visser G, Verlind E, Niezen-Koning KE, Buys CH, Smit GP, Scheffer H: Glycogen storage disease type Ia: recent experience with mutation analysis, a summary of mutations reported in the literature and a newly developed diagnostic flow chart.
Eur J Pediatr , 5 — Bhattacharya K: Dietary dilemmas in the management of glycogen storage disease type I. J Inherit Metab Dis , 34 3 — Fernandes J: Inborn metabolic diseases : diagnosis and treatment. Heidelberg: Springer; Book Google Scholar. Rake JP, Visser G, Labrune P, Leonard JV, Ullrich K, Smit GP: Guidelines for management of glycogen storage disease type I - European Study on Glycogen Storage Disease Type I ESGSD I.
Article PubMed Google Scholar. Bernier AV, Correia CE, Haller MJ, Theriaque DW, Shuster JJ, Weinstein DA: Vascular dysfunction in glycogen storage disease type I.
J Pediatr , 4 — Talente GM, Coleman RA, Alter C, Baker L, Brown BI, Cannon RA, Chen YT, Crigler JF Jr, Ferreira P, Haworth JC, Herman GE, Issenman RM, Keating JP, Linde R, Roe TF, Senior B, Wolfsdorf JI: Glycogen storage disease in adults. Ann Intern Med , 3 — Bandsma RH, Prinsen BH, van Der Velden Mde S, Rake JP, Boer T, Smit GP, Reijngoud DJ, Kuipers F: Increased de novo lipogenesis and delayed conversion of large VLDL into intermediate density lipoprotein particles contribute to hyperlipidemia in glycogen storage disease type 1a.
Pediatr Res , 63 6 — Bandsma RH, Smit GP, Kuipers F: Disturbed lipid metabolism in glycogen storage disease type 1. Wierzbicki AS, Watt GF, Lynas J, Winder AF, Wray R: Very low-density lipoprotein apolipoprotein B turnover in glycogen storage disease type Ia von Gierke disease.
J Inherit Metab Dis , 24 5 — Bandsma RH, Rake JP, Visser G, Neese RA, Hellerstein MK, Van Duyvenvoorde W, Princen HM, Stellaard F, Smit GP, Kuipers F: Increased lipogenesis and resistance of lipoproteins to oxidative modification in two patients with glycogen storage disease type 1a.
J Pediatr , 2 — Lee PJ, Celermajer DS, Robinson J, McCarthy SN, Betteridge DJ, Leonard JV: Hyperlipidaemia does not impair vascular endothelial function in glycogen storage disease type 1a. Atherosclerosis , 1 — Bali DS, Chen YT, Goldstein JL: Glycogen Storage Disease Type I.
Google Scholar. Nagasaka H, Hirano K, Ohtake A, Miida T, Takatani T, Murayama K, Yorifuji T, Kobayashi K, Kanazawa M, Ogawa A, Takayanagi M: Improvements of hypertriglyceridemia and hyperlacticemia in Japanese children with glycogen storage disease type Ia by medium-chain triglyceride milk.
Eur J Pediatr , 10 — Levy E, Thibault L, Turgeon J, Roy CC, Gurbindo C, Lepage G, Godard M, Rivard GE, Seidman E: Beneficial effects of fish-oil supplements on lipids, lipoproteins, and lipoprotein lipase in patients with glycogen storage disease type I.
Am J Clin Nutr , 57 6 —9. Melis D, Parenti G, Della Casa R, Sibilio M, Romano A, Di Salle F, Elefante R, Mansi G, Santoro L, Perretti A, Paludetto R, Sequino L, Andria G: Brain damage in glycogen storage disease type I.
J Pediatr , 5 — Moses SW: Historical highlights and unsolved problems in glycogen storage disease type 1. Eur J Pediatr , Suppl 1 :S2—9.
Minarich LA, Kirpich A, Fiske LM, Weinstei DA, Weinstein DA: Bone mineral density in glycogen storage disease type Ia and Ib. Genet Med , — Schwahn B, Rauch F, Wendel U, Schonau E: Low bone mass in glycogen storage disease type 1 is associated with reduced muscle force and poor metabolic control.
J Pediatr , 3 —6. Wolfsdorf JI: Bones benefit from better biochemical control in type 1 glycogen storage disease. J Pediatr , 3 — Wang DQ, Fiske LM, Carreras CT, Weinstein DA: Natural history of hepatocellular adenoma formation in glycogen storage disease type I.
Di Rocco M, Calevo MG, Taro M, Melis D, Allegri AE, Parenti G: Hepatocellular adenoma and metabolic balance in patients with type Ia glycogen storage disease. Mol Genet Metab , 93 4 — Cassiman D, Libbrecht , Verslype C, Meersseman W, Troisi R, Zucman-Rossi J, Van Vlierberghe H: An adult male patient with multiple adenomas and a hepatocellular carcinoma: mild glycogen storage disease type Ia.
J Hepatol , 53 1 —7. Lee PJ: Glycogen storage disease type I: pathophysiology of liver adenomas. Eur J Pediatr , Suppl 1 :S46—9. Liu PP, De Villa VH, Chen YS, Wang CC, Wang SH, Chiang YC, Jawan B, Cheung HK, Cheng YF, Huang TL, Eng HL, Chuang FR, Chen CL: Outcome of living donor liver transplantation for glycogen storage disease.
Transplant Proc , 35 1 —8. Marega A, Fregonese C, Tulissi P, Vallone C, Gropuzzo M, Toniutto PL, Baccarani U, Bresadola F, Toso F, Montanaro D: Preemptive liver-kidney transplantation in von Gierke disease: a case report. Transplant Proc , 43 4 —7.
Chen YT: Type I glycogen storage disease: kidney involvement, pathogenesis and its treatment. Pediatr Nephrol , 5 1 —6. Baker L, Dahlem S, Goldfarb S, Kern EF, Stanley CA, Egler J, Olshan JS, Heyman S: Hyperfiltration and renal disease in glycogen storage disease, type I.
Kidney Int , 35 6 — Reitsma-Bierens WC: Renal complications in glycogen storage disease type I. Eur J Pediatr , Suppl 1 :S60—2.
Wolfsdorf JI, Laffel LM, Crigler JF Jr: Metabolic control and renal dysfunction in type I glycogen storage disease. J Inherit Metab Dis , 20 4 — Mundy HR, Lee PJ: Glycogenosis type I and diabetes mellitus: a common mechanism for renal dysfunction?
Med Hypotheses , 59 1 —4. Yiu WH, Pan CJ, Ruef RA, Peng WT, Starost MF, Mansfield BC, Chou JY: Angiotensin mediates renal fibrosis in the nephropathy of glycogen storage disease type Ia. Kidney Int , 73 6 — Melis D, Parenti G, Gatti R, Casa RD, Parini R, Riva E, Burlina AB, Vici CD, Di Rocco M, Furlan F, Torcoletti M, Papadia F, Donati A, Benigno V, Andria G: Efficacy of ACE-inhibitor therapy on renal disease in glycogen storage disease type 1: a multicentre retrospective study.
Clin Endocrinol Oxf , 63 1 — Ozen H, Ciliv G, Kocak N, Saltik IN, Yuce A, Gurakan F: Short-term effect of captopril on microalbuminuria in children with glycogen storage disease type Ia. J Inherit Metab Dis , 23 5 — Chen YT, Scheinman JI, Park HK, Coleman RA, Roe CR: Amelioration of proximal renal tubular dysfunction in type I glycogen storage disease with dietary therapy.
N Engl J Med , 9 —3. Lee PJ, Dalton RN, Shah V, Hindmarsh PC, Leonard JV: Glomerular and tubular function in glycogen storage disease. Pediatr Nephrol , 9 6 — Restaino I, Kaplan BS, Stanley C, Baker L: Nephrolithiasis, hypocitraturia, and a distal renal tubular acidification defect in type 1 glycogen storage disease.
Humbert M, Labrune P, Simonneau G: Severe pulmonary arterial hypertension in type 1 glycogen storage disease.
Eur J Pediatr , Suppl 1 :S93—6. Humbert M, Labrune P, Sitbon O, Le Gall C, Callebert J, Herve P, Samuel D, Machado R, Trembath R, Drouet L, Launay JM, Simonneau G: Pulmonary arterial hypertension and type-I glycogen-storage disease: the serotonin hypothesis.
Eur Respir J , 20 1 — Ryan IP, Havel RJ, Laros RK Jr: Three consecutive pregnancies in a patient with glycogen storage disease type IA von Gierke's disease. Am J Obstet Gynecol , 6 — discussion —1.
Sechi A, Deroma L, Lapolla A, Paci S, Melis D, Burlina A, Carubbi F, Rigoldi M, Di Rocco M: Fertility and pregnancy in women affected by glycogen storage disease type I, results of a multicenter Italian study.
J Inherit Metab Dis , 36 1 — Download references. This case report describes five patients followed in internal medicine appointments and subspecialties. The author would like to thank the clinicians responsible for their follow up and for the information provided regarding each one, namely from neurology, nephrology, dyslipidemia and hepatic transplant appointments during follow up at Pediatric Hospital and Coimbra University Hospital.
Internal Medicine Ward, Coimbra University Hospital, Av. Bissaya Barreto e Praceta Prof, Mota Pinto, , Coimbra, Portugal. Serviço de Medicina, Enfermaria D, Centro Hospitalar e, Universitário de Coimbra, Avenida Bissaya Barreto e Praceta Prof, Mota Pinto, , Coimbra, Portugal.
You can also search for this author in PubMed Google Scholar. Correspondence to Patrícia Margarida Serra Carvalho. PC wrote the manuscript; PC was responsible for the follow up of one of the patients before referral to subspecialty appointment; NS was responsible for the follow up of four patients and JP was responsible for the follow up of one patient.
PD, LS and JC provided scientific support and revised the article. PMSC serves as garantor for the article. All authors read and approved the final manuscript. This article is published under license to BioMed Central Ltd. Reprints and permissions. Carvalho, P. et al. Glycogen Storage Disease type 1a — a secondary cause for hyperlipidemia: report of five cases.
J Diabetes Metab Disord 12 , 25
Thank you for visiting nature. You are Natural remedies for headaches a browser dsease with limited support Daily eating log Natural remedies for headaches. To obtain the best experience, studles recommend dizease use a more up to date browser or turn off compatibility mode in Internet Explorer. In the meantime, to ensure continued support, we are displaying the site without styles and JavaScript. An Author Correction to this article was published on 26 July Glycogen storage diseases GSDs are known as complex disorders with overlapping manifestations.
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