COMMON INBORN ERRORS OF METABOLISM

tyrosine

aa affected; alkaptonuria

homogentisate oxidase

enzyme deficient; alkaptonuria

alkaptonuria

effect; crippling arthritis

tyrosine

aa affected; albinism

tyrosinase

enzyme deficient; albinism

albinism

effects; light complexion photophobia

methionine

aa affected; homocystinuria

cystathionine synthetase

enzyme deficient; homocystinuria

homocystinuria

effects; ectopic lentils, osteoporosis

phenylalanine

aa affected; phenylketonuria pku

phenylalanine hydroxylase

enzyme deficient; phenylketonuria

phenylketonuria pku

retardation, ketonuria, diet

branched- chain amino acids

aa affected; maple syrup urine disease (MSUD)

branched- chain keto acid dehydrogenase

enzyme deficient; maple syrup urine disease (msud)

restrictions

effects; maple syrup urine disease msud