3-Methylcrotonyl-coenzyme A carboxylase deficiency in Amish/Mennonite adults identified by detection of increased acylcarnitines in blood spots of their children.
J Pediatr
; 132(3 Pt 1): 519-23, 1998 Mar.
Article
en En
| MEDLINE
| ID: mdl-9544913
Isolated 3-methylcrotonyl coenzyme A carboxylase (MCC) deficiency was documented in four adult women from the Amish/Mennonite population of Lancaster County, Pennsylvania. Metabolic and enzymatic investigations in these individuals were instituted after the detection of abnormal acylcarnitine profiles in blood spots obtained from their newborn children, in whom MCC activity was normal.
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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Ligasas de Carbono-Carbono
/
Errores Innatos del Metabolismo de los Aminoácidos
/
Leucina
Tipo de estudio:
Diagnostic_studies
/
Prognostic_studies
Límite:
Adult
/
Child, preschool
/
Female
/
Humans
/
Newborn
País/Región como asunto:
America do norte
Idioma:
En
Revista:
J Pediatr
Año:
1998
Tipo del documento:
Article
País de afiliación:
Estados Unidos
Pais de publicación:
Estados Unidos