Clinical and molecular investigation in Chinese patients with glutaric aciduria type I.
Clin Chim Acta
; 453: 75-9, 2016 Jan 30.
Article
en En
| MEDLINE
| ID: mdl-26656312
ABSTRACT
Glutaric aciduria type I (GA-I) is a rare autosomal recessive metabolic disorder caused by deficiency of glutaryl-CoA dehydrogenase (GCDH), leading to an abnormal metabolism of lysine, hydroxylysine and tryptophan. It results in accumulations of glutaric acid, 3-hydroxyglutaric acid and glutaconic acid. Clinical features include the sudden onset of encephalopathy, hypotonia and macrocephaly usually before age 18months. Here we report five cases of GA-I confirmed with mutation analysis. GCDH gene mutations were identified in all five probands with GA-I. Three of them had compound heterozygous mutations and two had homozygous mutations. Mutations of two alleles (c.334G>T and IVS11-11A>G) were novel and both of them were confirmed to be splice site mutations by reverse transcription PCR.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Encefalopatías Metabólicas
/
Glutaril-CoA Deshidrogenasa
/
Errores Innatos del Metabolismo de los Aminoácidos
Tipo de estudio:
Prognostic_studies
Límite:
Child
/
Child, preschool
/
Female
/
Humans
/
Male
Idioma:
En
Revista:
Clin Chim Acta
Año:
2016
Tipo del documento:
Article
País de afiliación:
China