Diversity in the incidence and spectrum of organic acidemias, fatty acid oxidation disorders, and amino acid disorders in Asian countries: Selective screening vs. expanded newborn screening.
Mol Genet Metab Rep
; 16: 5-10, 2018 Sep.
Article
en En
| MEDLINE
| ID: mdl-29946514
2-OH-GA, 2-hydroxyglutaric acidemia; 4-OH-BA, 4-hydroxybutyric acidemia; AA, amino acid disorder; ASA, argininosuccinic aciduria; Amino acid disorder; BKTD, ß-ketothiolase deficiency; CACT, carnitine-acylcarnitine translocase; CPT1, carnitine palmitoyltransferase I; CPT2, carnitine palmitoyltransferase II; CTLN1, citrullinemia type I; ENBS, expanded newborn screening; Expanded newborn screening; FAOD, fatty acid oxidation disorder; Fatty acid oxidation disorder; GA1, glutaric acidemia type I; GA2, glutaric acidemia type II; GC/MS, gas chromatographymass spectrometry; HAD, 3-hydoxyacyl-CoA dehydrogenase; HCU, homocystinuria; HMGL, 3-hydroxy-3-methylglutaryl-CoA lyase; HMGS, 3-hydroxy-3-methylglutaryl-CoA synthetase; IMD, inherited metabolic disease; Incidence rate; Inherited metabolic disease; LCHAD, long-chain 3-hydroxyacyl-CoA dehydrogenase; MCAD, medium-chain acyl-CoA dehydrogenase; MCCD, 3-methylcrotonyl-CoA carboxylase deficiency; MCD, multiple carboxylase deficiency; MGA, 3-methylglutaconic aciduria; MMA, methylmalonic acidemia; MS/MS, tandem mass spectrometry; MSUD, maple syrup urine disease; NBS, newborn screening; OA, organic acidemia; OXPA, 5-oxoprolinemia; Organic acidemia; PCD, primary carnitine deficiency; PKU, phenylketonuria; PPA, propionic acidemia; SCAD, short-chain acyl-CoA dehydrogenase; TFP, trifunctional protein; UCD, urea cycle disorder; VLCAD, very long-chain acyl-CoA dehydrogenase
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Tipo de estudio:
Diagnostic_studies
/
Incidence_studies
/
Risk_factors_studies
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Screening_studies
Idioma:
En
Revista:
Mol Genet Metab Rep
Año:
2018
Tipo del documento:
Article
País de afiliación:
Japón