Biochem Deficinecy Flashcards
X-linked; Inc in ammonia; nueronal damage and retardation; increase in orate, dec in citrulline; decrease in Arg
Ornitihine Transcarboxylase Deficiency (OTCase Def)
Fumarylacetoacetate deficiency; liver failure; cabbage odor; death with in the 1st year
Tyrosinemia I
TAT deficiency; inc Tyr; eye lesions; skin and nuero problems
Tyrosinemia II
Homogentisate oxidase deficincy; increase homogensitic acid; dark urine; dark catdigle
Alcaptonuria
ezcema, musty odor, hyperreflexia, seziures, tremor, AR
PKU
AR; mutation in the branched chain alpha ketoacid dehydrogenase; increased VAL, ILE, LEU; poor myelination of nerves
MSUD
Inc ammonia levels; brain damage; coma; death; decrease in orate; decrease in citrulline and Arg
Carbamoyl Phosphate Synthase I-urea cycle
Deficiency in arginosuccinate synthase; increase in citrulline; leathery, hypotonia, seziures, ataxia, and behavioral changes
Citrullinemia
hyperammonemia; Severe CNS effects: arginosuccinate lyase defiency
Arginosuccinate aciduria
no accumulation of ammonia; arginine in urine
Arginase Deficiency
Dislocation of lens, mental retadation, skeletal/CNS abndonramilties (Marfans); accumulation of homocystein and menthionine;
Deficeint cystathioine B synthase; Homocystunirua; Nitropusside CYanide Test
X-linked; increase production of nucleotides and degradation; hyperuricimia, gout, and kidney stones
Overacitve PRPP synthase
Xlinked recessive ; defective HGPRT; increase in monosodium urate and purines; self mutilitation
Lesch-Nyhan Syndrome
AR: defective APRT; can’t salvage adenine; Nepthrolithiasis with renal colic; heamturia; recurretnt UTIs; dysuria
APRT Deficiency
Increase in dATP and dGTP in the lymphoid tissue; decrease T cell count; lymphopenia; mental retardation; autoimmune disease
PNP deficiency
