Biochem Diseases

Von-Gierke- G6 phosphatase fasting hypoglycemia, hepatomegaly

Pompe- cardiomegaly and systemic fidindings, lysosomal alpha-1,4 glucosidase

Cori's dz- milder form, affects debranching enzyme, still have gluconeogenesis

McArdle's dz-increased glycogen in muscle can't break down

fabry's (XLR, neuopathy), Gacuher (most common, hepatoslenomegaly), Niemann-Pick (progressive neurodegernation, cherry red macula), Tay Sach's- progressive neurodegernation, Krabbe;s dz, metachromatic leukodystrophy

Hurler's developmental delay, gargolyism, corneal clouding hepatosplenomegaly. Hunter's syndrome- milder hrulers, XLR

HMG-CoA reductase

degrades TGs circulating in chylomicrons and VLDLs

degrades TG stored in adipocytes

catalyzes esterification of cholesterol

pancreatitis, hepatosplenomegaly, xanthomas, increased chylomicrons, TGs and cholesterol

responsible for degadation of TGs in chylomicrons and VLDL

inability to synthesize lipoproteins, AR, acumulation in enterocytes, inability to exposrt absorbed lipids, failure to thrive, steathorhea, ataxia, night blindness

Glucagon phosphorylates activates glycogen phosphorylase

Insulin- dephopshorylates, activates proetin phsophatease

usea cycele disorder, WLR, can't eliminate ammonia, orotic acid in urine, sx of hyperammonemia

EF- defect in fructokinase, benign

FI- defect in aldolase B, hypoglcemia, jaundice, cirrhosis, build up of ffurctose 1 phsophate and is toxic

GD- galactokinase deficit, mild condition AR, cataracts

Galactosemia- missing galactose-1-hsohate uridytransferase, toxic stuff accumulates causes liver probs, failure to thrive