one from free amonia (tissue and muscle; glutamine or alanine); the other from aspartate (combines with citrulline)
What allosteric activator does carbamoyl phosphate syntehtase 1 require?
What amino acid is the major mechanism of removing ammonia from the brain?
What drugs can be given for hyperammonia states in order to bind amino acids (glutamine) and assist in excretion?
benzoate and phenylbutyrate
Inheritance of ornithine transcarbamoylase deficiency?
What happens to BUN in OTC deficiency?
A patient with fair skin, mousy body odor, and mental retardation is not improving with restriction of diet?
he has tetrahydrobiopterin cofactor deficiency
Inhibition of degradation of what AMINO ACID is responsible for dark connective tissue, pigmented sclera, arthralgia, and black urine?
TYROSINE (homogentisic acid oxidase)
Increased homocysteine due to a defect in cystathionine synthase is a risk factor for what?
atherosclerosis (early MI and strokes); osteoporosis, kyphosis, mental retardation
What amino acid is essential in homocystinuria?
A child with cystein kidney stones has a defect with what?
Proximal tubule transport of cysteine, ornithine, lysine, arginine (COAL)
What amino acids cause problems in maple syrup urine disease?
isoleucine, leucine, and valine (I love vermont maple syrup); BRANCHED
defective neutral amino acid transport in renal and gut?
Hartnup; no tryptophan; no niacin; pellagra
What are the 4 glycogen storage disease?
von girke; pompe; cori; mcardle
What 2 lysosomal storgae diseases are X-linked recessive?
A patient comes in with small painless papules around the groin which show hyperkeratosis. He also has loss of sensation of the hands and feet, a murmur, and elevated levels of ceramide trihexoside. What enzyme is deficieny?
FABRY; a-galactosidase A
hepatosplenomegaly, aseptic necrosis of the femur, crumpled tissue paper. WHAT enzyme ?