J Child Neurol. 2008 Jan;23(1):112-7.
Persistent Growth Failure in Prader-Willi Syndrome Associated With Short-Chain Acyl-CoA Dehydrogenase Gene Variant.
Giurgiutiu DV, Espinoza LM, Wood TC, Dupont BR, Holden KR.
Department of Neurosciences, Medical University of South Carolina, Charleston.

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.

Categories: 2008, PWS, Short-chain acyl-CoA dehydrogenase deficiency, Fatty acid metabolism, Hypotonia, Developmental delays