Very Long Chain Acyl-CoA Dehydrogenase Deficiency
VLCAD deficiency

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Description from OMIM

Inborn errors of mitochondrial fatty acid beta-oxidation include medium-chain acyl-CoA dehydrogenase deficiency (201450), short-chain acyl-CoA dehydrogenase deficiency (201470), and very long-chain acyl-CoA dehydrogenase deficiency. VLCAD deficiency can be classified clinically into 3 forms: a severe early-onset form with high incidence of cardiomyopathy and high mortality; an intermediate form with childhood onset, usually with hypoketotic hypoglycemia and more favorable outcome; and an adult-onset, myopathic form with isolated skeletal muscle involvement, rhabdomyolysis, and myoglobinuria after exercise or fasting (Andresen et al., 1999). Patients reported with long-chain acyl-CoA dehydrogenase (LCAD) deficiency before VLCAD deficiency was defined were later found to have VLCAD deficiency (Strauss et al., 1995; Roe and Ding, 2001).



Prevalence of clinical parameters (%)







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Number of patients in the reference Percent affected patients (Between 0 and 1, eg. 0.1 = 10%)
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List of symptoms



Symptom/sign Organ system Percent affected Pubmed id Added on(yyyy-mm-dd) Edit/add reference
Hepatopathy digestive 100 % 7769092 2011-11-20
Coma nervous 100 % 7769092 2011-12-05
Cardiomyopathy circulatory 57 % 7769092 2011-11-20
Muscle weakness skeletal 57 % 7769092 2011-11-16
Hypotonia nervous 43 % 7769092 2011-11-20
Hypoglycemia multi 43 % 7769092 2011-11-20
Lactate accumulation circulatory 29 % 7769092 2011-11-20
Hepatomegaly digestive 29 % 7769092 2011-11-20
Cardiac arrhythmia circulatory 14 % 7769092 2011-11-20
Developmental delay multi 14 % 7769092 2011-11-20
Nystagmus nervous 14 % 7769092 2011-11-20
Myoclonus nervous 14 % 7769092 2011-11-20
Increased blood CK multi 14 % 7769092 2011-11-20



List of references:


Purification of human very-long-chain acyl-coenzyme A dehydrogenase and characterization of its deficiency in seven patients.
T Aoyama, M Souri, S Ushikubo, T Kamijo, S Yamaguchi, R I Kelley, W J Rhead, K Uetake, K Tanaka, T Hashimoto,

Mitochondrial very-long-chain acyl-coenzyme A dehydrogenase (VLCAD) was purified from human liver. The molecular masses of the native enzyme and the subunit were estimated to be 154 and 70 kD, respectively. The enzyme was found to catalyze the major part of mitochondrial palmitoylcoenzyme A dehydrogenation in liver, heart, skeletal muscle, and skin fibroblasts (89-97, 86-99, 96-99, and 78-87%, respectively). Skin fibroblasts from 26 patients suspected of having a disorder of mitochondrial beta-oxidation were analyzed for VLCAD protein using immunoblotting, and 7 of them contained undetectable or trace levels of the enzyme. The seven deficient fibroblast lines were characterized by measuring acyl-coenzyme A dehydrogenation activities, overall palmitic acid oxidation, and VLCAD protein synthesis using pulse-chase, further confirming the diagnosis of VLCAD deficiency. These results suggested the heterogenous nature of the mutations causing the deficiency in the seven patients. Clinically, all patients with VLCAD deficiency exhibited cardiac disease. At least four of them presented with hypertrophic cardiomyopathy. This frequency (> 57%) was much higher than that observed in patients with other disorders of mitochondrial long-chain fatty acid oxidation that may be accompanied by cardiac disease in infants.

The Journal of clinical investigation - Jun 1995