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 language | English (US) |
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Pages (from-to) | 112-117 |
Number of pages | 6 |
Journal | Journal of Child Neurology |
Volume | 23 |
Issue number | 1 |
DOIs | |
State | Published - Jan 2008 |
Externally published | Yes |
Keywords
- Failure to thrive
- Metabolism
- Neurodevelopment
- Prader-Willi
- Short-chain acyl-CoA dehydrogenase
ASJC Scopus subject areas
- Clinical Neurology
- Pediatrics, Perinatology, and Child Health