Early manifestation of very-long-chain acyl-CoA dehydrogenase deficiency (VLCADD) with a fatal complication

Very-long-chain acyl-CoA dehydrogenase deficiency (VLCADD) is a rare disorder of the mitochondrial beta-oxidation pathway. A female infant at 2,5 months of age presented with coma, cardiorespiratory arrest, hypoketotic hypoglycemia, hepatomegaly and hypertrophic cardiomyopathy. Urinary dicarboxylic acid profile suggested VLCADD. This diagnosis was confirmed by reduced enzyme activity in fibroblasts (20% of controls). After a few days the infant died of peritonitis caused by a penetrating ulcer of the duodenum. Discussion: A higher incidence of upper gastrointestinal ulcera is reported in patients with medium-chain acyl-CoA dehydrogenase deficiency (MCADD). VLCADD is characterized by early onset and high mortality due to cardiac disease. Gastrointestinal complications may contribute to or be directly responsible for death.