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Disorders

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supulora's version from 2015-12-21 23:20

Section

Question Answer
Argininosuccinate Synthetase DefectCitrullinemia
Argininosuccinase DefectArgininosuccinate Acidemia
Fumaryl Acetoacetate Hydrolase DeficiencyTyrosinemia Type I
Tyrosine aminotransferase DeficiencyRicher-Hanhart Syndrome
Cystathionine-B-Synthase DeficiencyHomocystinuria
Carbamoylphosphate Synthetase is defective enzymeHyperammonemia Type I
Ornithine Transcarbamoylase; Pyrimidine metabolites in urine which serve as urinary markers for this disorderHyperammonemia Type II
Transport of large neutral & aromatic amino acids are defective in this disorderHartnup Disorder
A deficiency in the production of y-glutamylcysteine synthase enzymeHemolytic Anemia
Effects of N-acetyl-p-benzoquinoneimine (NAPQI), a very toxic and potent primary metaboliteHepatic Centrilobular Necrosis (Acetaminophen Overdose)
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