Very long-chain acyl-CoA dehydrogenase deficiency in an infant presenting with massive hepatomegaly.
A 9-month-old boy with presented generalised hypotonia, severe cardiomyopathy, and massive liver enlargement following 10 days of viral gastroenteritis. He was diagnosed with very long-chain acyl-CoA dehydrogenase deficiency and has been successfully treated.
Boles
R G
RG
Division of Medical Genetics, Childrens Hospital Los Angeles, CA 90027, USA. rboles@chla.usc.edu
D044942:Acyl-CoA Dehydrogenase, Long-Chain / Q000172:deficiency*; D009202:Cardiomyopathies / Q000150:complications; D002331:Carnitine / Q000627:therapeutic use; D004032:Diet; D005759:Gastroenteritis / Q000150:complications; D006529:Hepatomegaly / Q000178:diet therapy / Q000201:enzymology* / Q000473:pathology; D006801:Humans; D007223:Infant; D008297:Male; D009123:Muscle Hypotonia / Q000150:complications; D014057:Tomography, X-Ray Computed; D014280:Triglycerides / Q000627:therapeutic use; D018487:Ventricular Dysfunction, Left / Q000503:physiopathology
D014280:Triglycerides; D044942:Acyl-CoA Dehydrogenase, Long-Chain; D002331:Carnitine