BIOCHEMISTRY: METABOLIC DISORDERS.

Pyruvate dehydrogenase deficiency	Congenital or acquiered (as in alcoholic due to B1 deficiency)		Neurologic defect, Lactic acidosis	Increase intake of ketogenic nutrients (high fat content or ↑ lysine/leucine)
Gkucose-6-phosphate dehydregenase deficiency	X-linked recessive	Most common human enzyme deficiency,more prevalent among black, ↑malarial resistance	↓NADPH in RBCs leads to hemolytic anemia. Heinz bodies, Bite cells
NADPH oxidase deficiency	Chronic granulomatous disease	Defect in microbicidal activity of neutrophils	Marked susceptibility to opportunistic infections	Diagnosis with negative nitroblue tetrazolium dye reduction test
Fructokinase deficiency	Essential fructosuria Autosomal recessive	Bening-milder symptoms than analogous disorder of galactose metabolism	Fructose appear in blood and urine
Aldolase B deficieny	Fructose intolerance Autosomal recessive	Fructose-1-phosphate accumulated. Inhibits glucogenolysis and gluconeogenesis	Hypoglycemia Jaundice Cirrhosis Vomitnig	↓intake of fructose and sucrose (glucose +fructose)
Galactokinase deficiency	Autosomal recessive	Galactitol accumulate if galactosa is present in diet	Galactose appear in bood/urine Infantile cataracts Failure to track obj./develop social smile
Galatose-1-phosphate uridyl transferase	Autosomal recessive	Accumulation of toxic substances (galactitol)	Failure to thrive Jaundice Hepatomegaly Infantile cataracts Mental retardation	Exclude galactose and lactose ( galactose  + glucose) from diet
Lactose deficiency	Age dependent or hereditary	Loss of brush border enzyme, also fallow to gastroenteritis	Bloating Cramps Osmotic diarrhea	Avoid dairy product or add lactose pills to diet