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Amino acid metabolic pathology

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Inborn error of amino acid metabolism (E70–E72, 270)
K→acetyl-CoA

Lysine/straight chain

Glutaric acidemia type 1 · type 2 · Hyperlysinemia · Pipecolic acidemia · Saccharopinuria

Maple syrup urine disease · Isovaleric acidemia · 3-Methylcrotonyl-CoA carboxylase deficiency · 3-hydroxy-3-methylglutaryl-CoA lyase deficiency · 3-Methylglutaconic aciduria 1

Hypertryptophanemia


G




Carnosinemia · Histidinemia · Urocanic aciduria

Hyperprolinemia · Prolidase deficiency

SSADHD



Maple syrup urine disease · Hypervalinemia · Isobutyryl-CoA dehydrogenase deficiency

Maple syrup urine disease · Beta-ketothiolase deficiency · 2-Methylbutyryl-CoA dehydrogenase deficiency

Hypermethioninemia · Homocystinuria · Cystathioninuria

General BC/OA

Propionic acidemia · Methylmalonic acidemia · Methylmalonyl-CoA mutase deficiency




Tetrahydrobiopterin deficiency · 6-Pyruvoyltetrahydropterin synthase deficiency

Type II tyrosinemia · Type III tyrosinemia/Hawkinsinuria · Alkaptonuria/Ochronosis · Type I tyrosinemia

Albinism: Ocular albinism (1) · Oculocutaneous albinism (Hermansky–Pudlak syndrome) · Waardenburg syndrome

Dopamine beta hydroxylase deficiency · reverse: Brunner syndrome



N-Acetylglutamate synthase deficiency · Carbamoyl phosphate synthetase I deficiency · Ornithine transcarbamylase deficiency/translocase deficiency · Citrullinemia · Argininosuccinic aciduria · Argininemia


Transport/
IE of RTT
Other

Trimethylaminuria · 2-Hydroxyglutaric aciduria · Fumarase deficiency

Template:Metabolic navs
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