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
StatePublished - Jan 1 2008
Externally publishedYes

Fingerprint

Butyryl-CoA Dehydrogenase
Prader-Willi Syndrome
Muscle Hypotonia
Growth
Genes
Hyperphagia
Fatty Acids
Obesity
Chromosomes
Phenotype

Keywords

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

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health

Cite this

Persistent growth failure in Prader-Willi syndrome associated with short-chain acyl-CoA dehydrogenase gene variant. / Giurgiutiu, Dan-Victor; Espinoza, Lesby M.; Wood, Tim C.; DuPont, Barbara R.; Holden, Kenton R.

In: Journal of Child Neurology, Vol. 23, No. 1, 01.01.2008, p. 112-117.

Research output: Contribution to journalArticle

Giurgiutiu, Dan-Victor ; Espinoza, Lesby M. ; Wood, Tim C. ; DuPont, Barbara R. ; Holden, Kenton R. / Persistent growth failure in Prader-Willi syndrome associated with short-chain acyl-CoA dehydrogenase gene variant. In: Journal of Child Neurology. 2008 ; Vol. 23, No. 1. pp. 112-117.
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