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Amino Acid Metabolism Defects

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rastarr80's version from 2015-11-19 00:13

Section

Amino acid transport disorder
Congenital disorders of amino acid metabolism
Inborn errors of renal tubular transport

 

Question Answer
2-Methylbutyryl-CoA dehydrogenase deficiency
3-hydroxy-3-methylglutaryl-CoA lyase deficiency
6-Pyruvoyltetrahydropterin synthase deficiency
Alkaptonuria
Carbamoyl phosphate synthetase I deficiency
Cystathioninuria
Cystinuria
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Question Answer
Dicarboxylic aminoaciduria
Dopamine beta hydroxylase deficiency
Fanconi syndrome
Glutathione synthetase deficiency
Guanidinoacetate methyltransferase deficiency
Hartnup disease
Homocystinuria
Hyperaminoacidemia
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Question Answer
Isobutyryl-coenzyme A dehydrogenase deficiency
Isovaleric acidemia
Maple syrup urine disease
Methylmalonic acidemia
Methylmalonyl-CoA mutase deficiency
N-Acetylglutamate synthase deficiency
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Question Answer
Oculocutaneous albinism
Organic acidemia
Ornithine aminotransferase deficiency
Ornithine transcarbamylase deficiency
Ornithine translocase deficiency
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Question Answer
Phenylketonuria
Propionic acidemia
Tetrahydrobiopterin deficiency
Tyrosinemia
Urea cycle disorder
Waardenburg syndrome
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