Identification of a founder mutation for maple syrup urine disease in Hutterites.
S D Med
; 67(4): 141-3, 2014 Apr.
Article
em En
| MEDLINE
| ID: mdl-24791375
ABSTRACT
Maple syrup urine disease (MSUD) is an organic acidemia detected on newborn screening. The condition has been reported with increased frequency in certain founder populations including Hutterites. We present a case of MSUD in a Hutterite boy. Mutation analysis was completed and identified a candidate founder mutation in the BCKDHB gene, specifically c.595_596delAG. Further testing of other Hutterites with MSUD is needed to determine whether additional mutations may exist.
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Base de dados:
MEDLINE
Assunto principal:
Etnicidade
/
Efeito Fundador
/
3-Metil-2-Oxobutanoato Desidrogenase (Lipoamida)
/
Doença da Urina de Xarope de Bordo
Tipo de estudo:
Diagnostic_studies
/
Prognostic_studies
Limite:
Humans
/
Male
/
Newborn
Idioma:
En
Ano de publicação:
2014
Tipo de documento:
Article