Glycogen storage diseases

GSD type 0 (Glycogen synthase deficiency ; GYS2 gene , 12p12.2 ; AR) - Fasting Ketotic Hypoglycemia , Seizures , Fatigue with exertion , Lactic acidosis , Short stature , osteopenia

GSD type 1a / Von Gierke's diesease (Glucose-6-Phosphatase deficiency ; G6PC gene , 17q ; AR) - Hepatomegaly with hepatic adenomas , Renomegaly , severe fasting hypoglycemia , Lactic acidosis , Hyperlipidemia (Doll like facies) , Hyperuricemia , Growth failure , Focal segmental glomerulosclerosis , interstitial fibrosis , Amyloidosis , Fanconi like syndrome , Nephrocalcinosis

GSD type 1b (Endoplasmic reticulum Glucose-6-Phosphate Translocase ; SLC37A4/G6PT1 , 11q23 ; AR) - Same but less severe than 1a , Low WBC (so recurrent infections) , Inflammatory bowel disease

GSD type 2 / Pompe's disease (Lysosomal acid maltase alpha 1,4 : 1,6 Glucosidase ; GAA gene , 17q25.2 ; AR) - Cardiorespiratory death , Cardiomegaly , Hepatomegaly , Generalized Muscle weakness , Proximal myopathy , Hypotonia , Respiratory insufficiency , Macroglossia , Hypertrophic cardiomyopathy

GSD type 3 / Cori's disease / Forbe's disease / Limit dextrinosis (Glycogen debranching enzyme ; AGL gene , 1p21 ; AR) - Hepatomegaly , cirrhosis , Fasting hypoglycemia , Ketosis , Hyperlipidemia , Normal lactate and uric acid levels , damage muscle and heart (cardiomyopathy) , weak bones

GSD type 4 / Andersen disease (Glycogen debranching enzyme ; GBE1 gene , 3p12.2 ; AR) - 

1) Fatal perinatal neuromuscular subtype in Utero (Fetal akinesia deformation sequence, decreased fetal movements , polyhydraminos , Hydrops fetalis , death in neonatal period)

2)Congenital neuromuscular subtype in newborn period (Hypotonia , Respiratory distress , Dilated cardiomyopathy , death in early infancy)

3) Classic progressive hepatic subtype (Normal at birth , Rapid development of Failure to thrive , Hepatomegaly , cirrhosis , Hypotonia , cardiomyopathy , Without liver transplantation death from liver failure by 5 yrs)

4) Non Progressive hepatic subtype

5) Childhood neuromuscular subtype (Death in 3rd decade)

GSD type 5 / McArdle disease (Myophosphorylase / Skeletal muscle glycogen phosphorylase ; PYGM gene , 11q13 ; AR) - Exercise induced cramps , Second wind phenomenon , Renal failure due to rhabdomyolysis and myoglobinuria , Cardiac arrythmias due to electrolyte imbalance

GSD type 6 / Her's disease (Liver glycogen phosphorylase ; PYGL gene , 14q22.1 ; AR) - Low blood sugar , hepatomegaly , hyperlipidemia

GSD type 7 / Tarui's disease (Muscle phosphofructokinase ; PFKM gene , 12q13.11 ; AR) - Hemolysis , Muscle cramps , Exercise intolerance , fatigue , Myoglobinuria

Fanconi-Bickel disease (GLUT2 deficiency ; SLC2A2 ,  chr 3 ; AR) - Glucose and Galactose intolerance , Failure to thrive , Hepatomegaly , Protruberant abdomen , Fasting hypoglycemia and Postprandial hyperglycemia , Proximal tubular nephropathy

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