Persistent growth failure in Prader-Willi syndrome associated with short-chain acyl-CoA dehydrogenase gene variant

Dan-Victor Giurgiutiu, Lesby M. Espinoza, Tim C. Wood, Barbara R. DuPont, Kenton R. Holden

Research output: Contribution to journalArticle

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.

Original languageEnglish (US)
Pages (from-to)112-117
Number of pages6
JournalJournal of Child Neurology
Volume23
Issue number1
DOIs
Publication statusPublished - Jan 1 2008
Externally publishedYes

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Keywords

  • Failure to thrive
  • Metabolism
  • Neurodevelopment
  • Prader-Willi
  • Short-chain acyl-CoA dehydrogenase

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health

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