Persistent growth failure in Prader-Willi syndrome associated with short-chain acyl-CoA dehydrogenase gene variant.
J Child Neurol
; 23(1): 112-7, 2008 Jan.
Article
em En
| MEDLINE
| ID: mdl-18184946
ABSTRACT
The authors report the rare association of Prader-Willi syndrome and short-chain acyl-CoA dehydrogenase gene variant. Prader-Willi syndrome, associated with paternal chromosome 15q11-q13 silencing, is characterized by neonatal/infantile hypotonia, growth failure, and neurodevelopmental delays in the first 1 to 2 years of life, typically followed by hyperphagia and obesity. Short-chain acyl-CoA dehydrogenase gene variant, with 625 G-to-A and 511 C-to-T changes, impairs C4-C6 fatty acid metabolism and variably causes neonatal/infantile hypotonia with developmental delays. The authors' patient continues to exhibit the classic severe growth failure of early infancy Prader-Willi syndrome at 40 months. Extensive laboratory investigations indicate that the short-chain acyl-CoA dehydrogenase gene variant is likely preventing or delaying the normal expression of the Prader-Willi syndrome phenotype.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Síndrome de Prader-Willi
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Supressão Genética
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Predisposição Genética para Doença
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Encefalopatias Metabólicas Congênitas
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Butiril-CoA Desidrogenase
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Transtornos do Crescimento
Tipo de estudo:
Risk_factors_studies
Limite:
Child, preschool
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Female
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Humans
Idioma:
En
Ano de publicação:
2008
Tipo de documento:
Article