Pediatric emergency medicine trisk 2425 2425
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Aminoacidopathies
Alkaptonuria
Cystinuria types I–III
Hartnup disease
Hawkinsinuria
Histidinemia
Homocystinuria types Ia, Ib, II
Nonketotic hyperglycinemia
Phenylketonuria
Tyrosinemia types I–III
Organic acidemias b
3-Hydroxy-3-methylglutaric aciduria
3-Methylcrotonylglycinuria
3-Methylglutaconic aciduria types I–IV
Biotinidase deficiency
Glutaric acidemia type I
Holocarboxylase synthetase deficiency
Hydroxyglutaric aciduria
Isovaleric acidemia
Maple syrup urine disease
Methylmalonic acidemia
Propionic acidemia types I, II
β-Ketothiolase deficiency
Urea cycle defects and disorders of ammonia detoxification
Urea cycle defects
Argininemia
Argininosuccinic aciduria
Carbamoyl phosphate synthetase deficiency
Citrullinemia
N-acetyl glutamate synthetase deficiency
Ornithine transcarbamylase deficiency
Hepatic amino acid transport
Homocitrullinuria, hyperornithinemia, and hyperammonemia (HHH) syndrome
Lysinuric protein intolerance
Fatty acid oxidation defects
Carnitine palmitoyltransferase deficiency types I, II
Carnitine transporter deficiency
Carnitine-acylcarnitine translocase deficiency
Hydroxymethylglutaryl-CoA (HMG-CoA) lyase deficiency, HMG-CoA synthetase deficiency
Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency
Medium-chain 3-ketoacyl thiolase (MCKAT) deficiency
Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency
Short-chain 3-hydroxyacyl-CoA dehydrogenase (SCHAD) deficiency
Short-chain acyl-CoA dehydrogenase (SCAD) deficiency
Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency
