AR mental retardation, hypopigmenation (precursor to tyrosine) Maternal PKU can cause it too Restrict diet
Maple syrup urine disease (Inheritance, Signs, Lab, Treatment)
AR deficiency of branched chain alpha keto dehydrogenase complex Mental retardation, lethargy, coma Increase in branched chain AAs(leucine, iso) in urine (maple syrup) Restrict diet, leads to secondary hyperammonemia because they inhibit N-actetylglutamate synthetase
Homocystinuria (Mech, Signs, Treatment)
deficiency in cystathionine synthase Osteoporosis, retardation, lens dislocation, MI in 20's Restrict Methionine and in some cases megadoses of B6 or B12 to send it in either direction
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