Type (Eponym) Enzyme deficiency (Gene) Incidence (births) Hypo-glycemia? Hepato-megaly? Hyperlip-idemia? Muscle symptoms Development/ prognosis Other symptoms GSD 0 Glycogen synthase (GYS2) ? Yes No No Occasional muscle cramping Growth failure in some<unk> s GSD I / GSD 1 (von Gierke's disease) Glucose-6-phosphatase (G6PC / SLC37A4) 1 in 50,000 – 100,000 Yes Yes Yes None Growth failure Lactic acidosis, hyperuricemia GSD II / GSD 2 (Pompe disease ) Acid alpha-glucosidase (GAA) 1 in 13,000. No Yes No Muscle weakness Progressive proximal skeletal muscle weakness with varied timeline to threshold of functional limitation (early childhood to adulthood). Approximately 15% of the Pompe population is classified as infantile Pompe which is typically deadly within the first year if untreated. Heart failure (infantile), respiratory difficulty (due to muscle weakness) GSD III / GSD 3 (Cori's disease or Forbes' disease) Glycogen debranching enzyme ( AGL) 1 in 100,000 Yes Yes Yes Myopathy GSD IV / GSD 4 (Andersen disease) Glycogen branching enzyme (GBE1) 1 in 500,000 No Yes, also cirrhosis No Myopathy and dilated cardiomyopathy Failure to thrive, death at age ~5 years GSD V / GSD 5 (McArdle disease) Muscle glycogen phosphorylase (PYGM) 1 in 100,000 – 500,000 No No No Exercise-induced cramps, Rhabdomyolysis Renal failure by myoglobinuria, second wind phenomenon GSD VI / GSD 6 (Hers' disease) Liver glycogen phosphorylase (PYGL) Muscle phosphoglycerate mutase (PGAM2) 1 in 65,000 – 85,000 Yes Yes Yes None initially benign, developmental delay follows. GSD VII / GSD 7 (Tarui's disease) Muscle phosphofructokinase (PFKM) 1 in 1,000,000 No No No Exercise-induced muscle cramps and weakness developmental delay In some haemolytic anaemia GSD IX / GSD 9 Phosphorylase kinase (PHKA2 / PHKB / PHKG2 / PHKA1) ? Yes Yes Yes None Delayed motor development, Developmental delay GSD X / GSD 10 Phosphoglycerate mutase ( PGAM2) ? ? ? ? Exercise-induced muscle cramps and weakness Myoglobinuria GSD XI / GSD 11 Muscle lactate dehydrogenase (LDHA) ? ? ? ? Fanconi-Bickel syndrome formerly GSD XI / GSD 11, no longer considered a GSD Glucose transporter (GLUT2) ? Yes Yes No None GSD XII / GSD 12 Aldolase A (ALDOA) ? No In some No Exercise intolerance, cramps. In some Rhabdomyolysis. Hemolytic anemia and other symptoms GSD XIII / GSD 13 β-enolase (ENO3) ? No ? No Exercise intolerance, cramps Increasing intensity of myalgias over decades Serum CK: Episodic elevations; Reduced with rest GSD XV / GSD 15 Glycogenin-1 (GYG1) Rare No No No Muscle atropy Slowly progressive weakness over decades None Remarks: * Some GSDs have different forms, e.g. infantile, juvenile, adult (late-onset). * Some GSDs have different subtypes, e.g. GSD1a / GSD1b, GSD9A1 / GSD9A2 / GSD9B / GSD9C / GSD9D. * GSD type 0: Although glycogen synthase deficiency does not result in storage of extra glycogen in the liver, it is often classified with the GSDs as type 0 because it is another defect of glycogen storage and can<unk>  similar problems. * GSD type VIII (GSD 8): In the past it was considered a distinct condition, however it is now classified with GSD type VI or GSD IXa1; it has been described as X-linked recessive inherited. * GSD type XI (GSD 11): Fanconi-Bickel syndrome, hepatorenal glycogenosis with renal Fanconi syndrome, no longer considered a glycogen storage disease. * GSD type XIV (GSD 14): Now classed as Congenital disorder of glycosylation type 1 (CDG1T), affects the phosphoglucomutase enzyme (gene PGM1). * Lafora disease is considered a complex neurodegenerative disease and also a glycogen metabolism disorder.
medical cause of Neutropenia
symptoms of Biphenotypic acute leukaemia
symptom of Biphenotypic acute leukaemia
symptom of Acute myeloid leukemia
symptom of Aplastic anemia
symptom of Myelodysplastic syndrome
symptoms of Aplastic anemia
complications of Acute lymphoblastic leukemia