Glycogen storage diseases

glycogen phosphorylase deficiency

glucose-6-phosphate deficiency

Lactic acidosis, hyperlipidemia and hyperuricemia (goit)

alpha-1,6-glucosidase deficiency

alpha-1,4-glucosidase deficiency

cardiomegaly

diaphragm weakness leading to respiratory failure

increased glycogen in the liver, severe fasting hypoglycemia

hepatomegaly, hypoglycemia, hyperlipidemia (but with normal kidnesy, lactate and uric acid)

painful muscle cramps, myoglobinuria with strenuous exercise

severe hepatosplenomegaly and enlarged kidneys

inheritence pattern for von gierke's disease?

inheritence pattern for von mcardles disease?

inheritence pattern for von pompe's disease?

a deficiency of glucose-6-phosphatase leaves cells unable to remove glucose from cells in times of need... therefore resulting in severe fasting hypoglycemia, tons of glycogen in the liver and increased blood lactate and hepatomegaly

this disease results from the inability to break down branched glycogen as a result of a lack of alpha-1,4-glucosidase which eventually leads to cardiomegaly (in kids) or diphragm weakness and respiratory failure (in adults)

a deficiency in skeletal muscle glycogen phophorylase results in increased amounts of glycogen in the mm cells which will eventually lead to increased water up take and lysis... this disease will lead to mm cramps and myoglobinuria and eventual rhabdomyolysis with strenuous exercise