Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase (L-CHAD) deficiency in a patient with the Bannayan-Riley-Ruvalcaba syndrome.
Bannayan-Riley-Ruvalcaba syndrome (BRRS) is an autosomal dominant condition of macrocephaly in combination with lipomas/hemangiomas, hypotonia, developmental delay, and a lipid myopathy. The etiology of the lipid storage myopathy has been unclear. We describe a black boy with findings of BRRS who also has a defect in long-chain fatty acid oxidation expressed in cultured skin fibroblasts as a deficiency of long-chain-L-3-hydroxyacyl-CoA dehydrogenase (L-CHAD). He also has an abnormal brain MRI and increased size of both lower limbs. We present this child because of his unusual combination of findings, and postulate that L-CHAD deficiency may be the cause of the lipid myopathy in BRRS.
Fryburg
J S
JS
Department of Pediatrics, University of Virginia Health Sciences Center, Charlottesville 22908.
Pelegano
J P
JP
Bennett
M J
MJ
Bebin
E M
EM
D015094:3-Hydroxyacyl CoA Dehydrogenases / Q000172:deficiency*; D000015:Abnormalities, Multiple / Q000201:enzymology* / Q000473:pathology; D006391:Hemangioma / Q000473:pathology; D006801:Humans; D007223:Infant; D008067:Lipoma / Q000473:pathology; D063989:Long-Chain-3-Hydroxyacyl-CoA Dehydrogenase; D008279:Magnetic Resonance Imaging; D008297:Male; D008854:Microscopy, Electron; D009132:Muscles / Q000648:ultrastructure; D009135:Muscular Diseases / Q000473:pathology; D012983:Soft Tissue Neoplasms / Q000473:pathology; D013577:Syndrome
D015094:3-Hydroxyacyl CoA Dehydrogenases; D063989:Long-Chain-3-Hydroxyacyl-CoA Dehydrogenase