Very long chain acyl-CoA dehydrogenase deficiency: successful treatment of acute cardiomyopathy.
Very-long-chain acyl-CoA dehydrogenase (VLCAD) deficiency is a severe defect of mitochondrial fatty acid oxidation characterized by hypertrophic cardiomyopathy, pericardial effusion, steatosis, and hypoglycemia, often resulting in death by 4-5 months of age. The onset of cardiomyopathy and pericardial effusion is insidious and sudden, necessitating early diagnosis and intervention to prevent death. A family affected with this defect is described in which dietary therapy with medium-chain triglycerides (MCT) was associated with rapid reversal of these severe clinical symptoms. Diagnosis by acylcarnitine analysis in the neonatal period can provide the opportunity for early clinical intervention. Prenatal diagnosis from amniocytes by enzymology or in vitro analysis of the fat oxidation pathway with deuterated fatty acid precursors has also been successful and permits intervention at birth. Of 10 affected children, 7 untreated cases died within the first several months while the remaining 3 cases survived when treated with medium-chain triglycerides as the major source of dietary fat.
Brown-Harrison
M C
MC
Joseph W. Summers Institute of Metabolic Disease, Baylor University Medical Center, Dallas, Texas 75246, USA.
Nada
M A
MA
Sprecher
H
H
Vianey-Saban
C
C
Farquhar
J
J
Gilladoga
A C
AC
Roe
C R
CR
D000208:Acute Disease; D044942:Acyl-CoA Dehydrogenase, Long-Chain / Q000172:deficiency*; D009202:Cardiomyopathies / Q000178:diet therapy* / Q000201:enzymology; D002478:Cells, Cultured; D003998:Dicarboxylic Acids / Q000652:urine; D005227:Fatty Acids / Q000378:metabolism; D005260:Female; D005347:Fibroblasts / Q000201:enzymology; D006801:Humans; D007223:Infant; D007225:Infant Food; D008052:Lipid Metabolism, Inborn Errors / Q000150:complications* / Q000178:diet therapy / Q000201:enzymology; D008297:Male
D003998:Dicarboxylic Acids; D005227:Fatty Acids; D044942:Acyl-CoA Dehydrogenase, Long-Chain