Premium
DICARBOXYLIC ACIDURIA DUE TO MEDIUM CHAIN ACYL CoA DEHYDROGENASE DEFECT
Author(s) -
DIVRY P.,
DAVID M.,
GREGERSEN N.,
KØLVRAA S.,
CHRISTENSEN E.,
COLLET J. P.,
DELLAMONICA C.,
COTTE J.
Publication year - 1983
Publication title -
acta pædiatrica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.772
H-Index - 115
eISSN - 1651-2227
pISSN - 0803-5253
DOI - 10.1111/j.1651-2227.1983.tb09849.x
Subject(s) - medicine , endocrinology , carnitine , acyl coa dehydrogenase , hypoglycemia , excretion , urinary system , ketosis , biochemistry , dehydrogenase , enzyme , diabetes mellitus , chemistry
. 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.