Milder childhood form of very long-chain acyl-CoA dehydrogenase deficiencyin a 6-year-old Japanese boy

We investigated the clinical and biochemical characteristics of a 6-year-ol d Japanese boy with very-long-chain acyl-CoA dehydrogenase (VLCAD) deficien cy. He had hypoketotic hypoglycaemia, exercise- and fasting-induced letharg y, hepatomegaly and cardiomegaly. Significant laboratory findings included elevated plasma levels of creatine phosphokinase and acyl-carnitine and a f atty liver at biopsy suggesting a diagnosis of VLCAD deficiency. Conclusion The diagnosis of very long-chain acyl-CoA dehydrogenase deficien cy was supported by the results of acyl-CoA dehydrogenase activity for C-8 and C-16 fatty acids in skin fibroblasts from the patient. Treatment with m edium chain triglycerides and L-carnitine in the diet improved his hepatome galy and cardiomegaly.