title: Very long chain acyl-CoA dehydrogenase deficiency in a pair of mildly affected monozygotic twin sister in their late fifties.
abstract: Very long-chain acyl-CoA dehydrogenase (VLCAD) catalyses the initial step of mitochondrial beta-oxidation of long-chain fatty acids with a chain length of 14 to 20 carbons. Deficiency of VLCAD activity has been associated with a range of phenotypes, including a severe lethal form presenting in the infantile period and a milder variant with onset in childhood. Varying rates of residual enzyme activity partly explain the heterogeneity in presentations. Here we report the course of disease in a pair of monozygotic twin sisters who were diagnosed in their late forties during an evaluation for rhabdomyolysis and fatigue. Interestingly, the patients' complaints were most severe during puberty and declined significantly after the menopause. The basis for this observation is uncertain, but may be related to hormonally-mediated changes in lipid metabolism that may occur at these times. As metabolic decompensation can be associated with significant morbidity, timely diagnosis of VLCAD deficiency is important. The introduction of appropriate dietary measures (i.e. avoidance of fasting, long-chain fat restriction and supplementation with medium-chain triglycerides) greatly reduces the likelihood of complications.
authors.affiliation: Department of Pediatrics and Clinical Genetics at Columbia University Medical Center, Morgan Stanley Children's Hospital, New York, NY, USA.
authors.forename: A
authors.initials: A
authors.lastname: Zia
authors.forename: E H
authors.initials: EH
authors.lastname: Kolodny
authors.forename: G M
authors.initials: GM
authors.lastname: Pastores
mesh_terms: D044942:Acyl-CoA Dehydrogenase, Long-Chain / Q000172:deficiency*; D018450:Disease Progression; D004200:Diseases in Twins / Q000175:diagnosis / Q000178:diet therapy / Q000201:enzymology*; D005260:Female; D006801:Humans; D008052:Lipid Metabolism, Inborn Errors / Q000175:diagnosis / Q000178:diet therapy / Q000201:enzymology*; D008875:Middle Aged; D010641:Phenotype; D012720:Severity of Illness Index; D014430:Twins, Monozygotic
chemical_list: D044942:Acyl-CoA Dehydrogenase, Long-Chain