Poher AL, Tschöp MH, Müller TD Peptides Feb; Exercise and Regulation of Carbohydrate Metabolism. Mul JD, Stanford KI, Hirshman MF, Goodyear LJ Prog Mol Biol Transl Sci ; Epub Aug 20 doi: Inositol is an effective and safe treatment in polycystic ovary syndrome: a systematic review and meta-analysis of randomized controlled trials.

Greff D, Juhász AE, Váncsa S, Váradi A, Sipos Z, Szinte J, Park S, Hegyi P, Nyirády P, Ács N, Várbíró S, Horváth EM Reprod Biol Endocrinol Jan 26;21 1 Oral administration of Blautia wexlerae ameliorates obesity and type 2 diabetes via metabolic remodeling of the gut microbiota.

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Dimidi E, Cox SR, Rossi M, Whelan K Nutrients Aug 5;11 8 doi: Glycosylation in the Era of Cancer-Targeted Therapy: Where Are We Heading? Mereiter S, Balmaña M, Campos D, Gomes J, Reis CA Cancer Cell Jul 8;36 1 m6A-regulated tumor glycolysis: new advances in epigenetics and metabolism.

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Wang Z, Dong C Trends Cancer Jan;5 1 These longer molecules must also be broken down by the body. If an enzyme that is needed to process a certain sugar is missing, that sugar can accumulate in the body, causing problems. Galactosemia Galactosemia Galactosemia a high blood level of galactose is a carbohydrate metabolism disorder that is caused by a lack of one of the enzymes necessary for metabolizing galactose, a sugar that is part Glycogen storage diseases Glycogen Storage Diseases Glycogen storage diseases are carbohydrate metabolism disorders that occur when there is a defect in the enzymes that are involved in the metabolism of glycogen, often resulting in growth abnormalities Hereditary fructose intolerance Hereditary Fructose Intolerance Hereditary fructose intolerance is a carbohydrate metabolism disorder that is caused by a lack of the enzyme needed to metabolize fructose.

Very small amounts of fructose cause low blood sugar Pyruvate metabolism disorders Pyruvate Metabolism Disorders Pyruvate metabolism disorders are carbohydrate metabolism disorders that are caused by a lack of the ability to metabolize a substance called pyruvate.

These disorders cause a buildup of lactic The following are some English-language resources that may be useful. Please note that THE MANUAL is not responsible for the content of these resources. National Organization for Rare Disorders NORD : This resource provides information to parents and families about rare diseases, including a list of rare diseases, support groups, and clinical trial resources.

Genetic and Rare Diseases Information Center GARD : This resource provides and easy to understand information about rare or genetic diseases.

Learn more about the Merck Manuals and our commitment to Global Medical Knowledge. At the same time, the probability of a lethal outcome decreased 2,fold in patients without CMD.

At 12 months, patients with CMD showed a significantly higher frequency and longer persistence of complaints. This trend was more pronounced in patients with DM2 than in those with NDH. A prognostic model was developed to determine the risk of lethal outcome.

The model included such known predictors as concomitant ischemic heart disease, history of myocardial infarction or stroke, blood glucose level, and age. Conclusion: Carbohydrate metabolism disorders aggravate the course of COVID and increase mortality. One year after infection, patients with DM2 and NDH were more likely to have symptoms typical for post-COVID syndrome, and NDH resolved in most cases after the infection.

ОБОСНОВАНИЕ: ОБОСНОВАНИЕ. Многочисленные исследования свидетельствуют о высокой встречаемости различных нарушений углеводного обмена НУО при новой коронавирусной инфекции НКИ , утяжеляющих ее течение и приводящих к большей частоте смертельных исходов.

Это актуализирует поиск факторов риска неблагоприятных исходов и оценку отдаленных последствий COVID у пациентов с НУО. ЦЕЛЬ: ЦЕЛЬ.

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DNA test: Autosomal recessive mutation on PYGM gene. GSD type IX GSD 9, phosphorylase b kinase deficiency, PhK deficiency, liver glycogenosis Formerly GSD type VIII GSD 8. Lysosome-associated membrane protein 2 Alternative pathway to glycogenolysis.

Danon disease GSD 2b, Danon disease, lysosomal glycogen storage disease without acid maltase deficiency. Classic infantile form Pompe disease : Cardiomyopathy and muscular hypotonia. In some respiratory involvement.

Juvenile and adult form: Myopathy of the skeletal muscles. Exercise intolerance. Some similarity to limb-girdle dystrophy. Non-classic infantile form: Less severe. Mutations in the PRKAG2 gene have been traced to fatal congenital nonlysosomal cardiac glycogenosis; PRKAG2 is a noncatalytic gamma subunit of AMP-activated protein kinase AMPK , which affects the release of GP by phosphorylase kinase during nonlysosomal glycogenolysis.

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Download as PDF Printable version. In other projects. Wikimedia Commons. Medical condition. Main article: Glycogen storage disease. See also: Lactose intolerance. This is a dynamic list and may never be able to satisfy particular standards for completeness. You can help by adding missing items with reliable sources.

Carbohydrate metabolism. Medical Genetics. Chapter 7. Biochemical genetics:Disorders of metabolism. The Journal of Physiology. doi : PMC PMID Frontiers in Neurology.

March Retrieved Journal of Medical Genetics. Annals of Clinical Biochemistry. S2CID November Molecular Genetics and Metabolism. July The New England Journal of Medicine. January Journal of Inherited Metabolic Disease. et al. Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases.

Acta Neuropathol , — Proceedings of the National Academy of Sciences of the United States of America. Bibcode : PNAS.. Neuromuscular Disorders. A common pathophysiologic feature of glycogenosis types III, V, and VII". Arquivos de Neuro-Psiquiatria. Classification D. MeSH : D ICD - 10 : E73 - E74 ICD - 9-CM : MeSH : D Inborn error of carbohydrate metabolism : monosaccharide metabolism disorders Including glycogen storage diseases GSD.

Congenital alactasia Sucrose intolerance. Glucose-galactose malabsorption Inborn errors of renal tubular transport Renal glycosuria Fructose malabsorption De Vivo Disease GLUT1 deficiency Fanconi-Bickel syndrome GLUT2 deficiency. Essential fructosuria Fructose intolerance.

GSD type 0 glycogen synthase deficiency GSD type IV Andersen's disease, branching enzyme deficiency Adult polyglucosan body disease APBD Lafora disease GSD type XV glycogenin deficiency. GSD type III Cori's disease, debranching enzyme deficiency GSD type VI Hers' disease, liver glycogen phosphorylase deficiency GSD type V McArdle's disease, myophosphorylase deficiency GSD type IX phosphorylase kinase deficiency Phosphoglucomutase deficiency PGM1-CDG, CDG1T, formerly GSD-XIV.

Glycogen storage disease type II Pompe's disease, glucosidase deficiency, formerly GSD-IIa Danon disease LAMP2 deficiency, formerly GSD-IIb. Pyruvate carboxylase deficiency Fructose bisphosphatase deficiency GSD type I von Gierke's disease, glucose 6-phosphatase deficiency.

Glucosephosphate dehydrogenase deficiency Transaldolase deficiency SDDHD Transketolase deficiency 6-phosphogluconate dehydrogenase deficiency.

Hyperoxaluria Primary hyperoxaluria Pentosuria Fatal congenital nonlysosomal cardiac glycogenosis AMP-activated protein kinase deficiency, PRKAG2. Lysosomal storage diseases : Inborn errors of carbohydrate metabolism Mucopolysaccharidoses.

MPS I Hurler syndrome , Hurler—Scheie syndrome , Scheie syndrome MPS II: Hunter syndrome MPS III: Sanfilippo syndrome MPS IV: Morquio syndrome MPS VI: Maroteaux-Lamy syndrome MPS VII: Sly syndrome MPS IX: Hyaluronidase deficiency. Lysosomal storage diseases : Inborn errors of carbohydrate metabolism Glycoproteinoses.

Dolichol kinase deficiency Congenital disorder of glycosylation. Mucolipidosis : I-cell disease ML II Pseudo-Hurler polydystrophy ML III. Aspartylglucosaminuria Fucosidosis mannosidosis Alpha-mannosidosis Beta-mannosidosis Sialidosis Schindler disease.

solute carrier family Salla disease Galactosialidosis. Genetic disorder , membrane: Solute carrier disorders. SLC11A1 Crohn's disease SLC12A3 Gitelman syndrome SLC16A1 HHF7 SLC16A2 Allan—Herndon—Dudley syndrome SLC17A3 Von Gierke's disease , GSD-Ic SLC17A5 Salla disease SLC17A8 DFNA SLC26A2 Multiple epiphyseal dysplasia 4 Achondrogenesis type 1B Recessive multiple epiphyseal dysplasia Atelosteogenesis, type II Diastrophic dysplasia SLC26A4 Pendred syndrome SLC35C1 CDOG 2C SLC37A4 Von Gierke's disease , GSD-Ib SLC39A4 Acrodermatitis enteropathica SLC40A1 African iron overload.

SLC54A1 Mitochondrial pyruvate carrier deficiency. see also solute carrier family. Categories : Inborn errors of carbohydrate metabolism Types of diabetes. Hidden categories: Articles with short description Short description is different from Wikidata All articles with unsourced statements Articles with unsourced statements from July Dynamic lists Commons category link is on Wikidata.

Toggle limited content width. Medical genetics. GCK: Pancreatic beta cells Hyperinsulinemic hypoglycemia , familial, 3 HHF3, hyperinsulinism due to glucokinase deficiency. GCK: Pancreatic beta cells Maturity onset diabetes of the young type II MODY2, GCK-MODY.

Hyperglycemia due to hypoinsulinemia while fasting but some glucose tolerance when consuming carbohydrates. Glycolysis step 2 Glucosephosphate isomerase. GPI: RBCs Glucosephosphate isomerase deficiency GPI deficiency, GPID, hemolytic anemia due to glucophosphate isomerase deficiency. Glycolysis step 3 Phosphofructo-kinase 1 Not involved in glyconeogenesis.

PFKM : Muscle, also RBCs PFKL : Liver, also RBCs GSD type VII GSD 7, Tarui's Disease, Phosphofructokinase deficiency. Classic form: Symptoms usually appear in early childhood. Exercise-induced muscle cramps, weakness and sometimes rhabdomyolysis. Nausea and vomiting following strenuous exercise.

Myoglobinuria, haemolytic anaemia, Hyperuricemia is common. High levels of bilirubin and jaundiced appearance possible. Late-onset form: Presents later in life. Myopathy, weakness and fatigue.

Exercise intolerance more than in GSD 5. Severe symptoms from classic type are absent. Infantile form: Rare. Often floppy infant syndrome hypotonia , arthrogryposis, encephalopathy, cardiomyopathy and respiratory issues. Also central nervous system manifest possible, usually seizures.

Hemolytic form: The defining characteristic is hemolytic anemia. Myopathy not as common. Exercise test: Late about 3 times increase of lactate higher than in GSD 5 and lower than in healthy. Increased rise of ammonia. No specific treatment. General advice is avoidance of vigorous exercise and of high-carbohydrate meals.

ALDOA : Muscle, also liver and RBCs GSD type XII GSD 12, Aldolase A deficiency, ALDOA deficiency, red cell aldolase deficiency. Muscle Symptoms: Myopathy. Exercise intolerance, cramps. In some rhabdomyolysis and myoglobinuria. Liver Symptoms: In some Hepatomegaly RBC Symptoms: Hemolytic anemia.

ALDOB : Liver Hereditary fructose intolerance Aldolase B deficiency, ALDOB deficiency. ALDOC : Brain Unclear role in : Alzheimer's Mild cognitive impairment Schizophrenia. OMIM: ALDOC. Glycolysis step 5 Triosephosphate isomerase.

TPI1 : RBCs Triosephosphate isomerase deficiency TPID. Hemolytic anemia. Reticulocytosis and hyperbilirubinemia are common. Classical generalized form: Progressive neurologic dysfunction with dystonia, tremor, dyskinesia, pyramidal tract signs, cardiomyopathy and spinal motor neuron involvement with progressive neuromuscular impairment severe weakness and muscle wasting.

Glycolysis step 6 Glyceraldehyde 3-phosphate dehydrogenase. GAPDH : Brain Unclear role in : Alzheimer's Huntington's Parkinson's. OMIM: GAPDH. Berlin, Heidelberg: Springer; Tang M, Etokidem E, Lai K.

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