Dicarboxylic aciduria due to medium chain acyl CoA dehydrogenase defect. A cause of hypoglycemia in childhood.
Dicarboxylic aciduria was found during hypoglycemic episode in a 14 months old girl. Her brother had died at the age of 4 years during febrile illness. A ketogenic diet induced in this patient a severe hypoglycemia. Urinary organic acid profile exhibited abnormal excretion of the C6-C10 dicarboxylic acids (adipic-suberic-sebacic) and related metabolites (5 hydroxyhexanoic, hexanoylglycine, suberyl glycine). This pattern suggested a defect in fatty acids beta oxidation. Plasma carnitine values was within control limits. Similar clinical findings and urinary organic acids excretion have been described in 6 patients since the initial case of Gregersen. Enzymatic studies on cultivated fibroblasts from our patient showed a defect in medium chain CoA dehydrogenase. The treatment of this disease consists of glucose infusion during attacks and prevention of fasting. This rare disease must be considered in a child with non ketotic hypoglycemia or Reye's syndrome.
D044944:Acyl-CoA Dehydrogenases / Q000097:blood / Q000172:deficiency* / Q000652:urine; D000596:Amino Acids / Q000378:metabolism; D003998:Dicarboxylic Acids / Q000652:urine*; D005260:Female; D005347:Fibroblasts / Q000201:enzymology; D006801:Humans; D007003:Hypoglycemia / Q000201:enzymology / Q000652:urine*; D007223:Infant
D000596:Amino Acids; D003998:Dicarboxylic Acids; D044944:Acyl-CoA Dehydrogenases