Medium chain acyl-CoA dehydrogenase deficiency.
From 65 reported cases of medium chain acyl-CoA dehydrogenase deficiency, we found an average presenting age of 13.5 months and a mean age at death of 18.5 months. One quarter of patients died of a Reye-like syndrome and/or sudden infant death. In half the cases there had been at least one sibling death. Asymptomatic cases were not uncommon (12% of cases). The crises were generally induced by a prolonged fast and after a viral prodromal phase in three quarters of cases. The crises consisted of somnolence progressing to lethargy which could lead to coma. Vomiting was frequent (60% of cases). Seizures, which were found in 29% of cases, represented a bad prognosis. The physical examinations revealed frequently a variable and regressive anicteric hepatomegaly. Blood and urine analysis revealed in most instances hypoglycaemia (96% of cases) with hypoketonuria and sometimes metabolic acidosis. Hepatic and muscular cytolytic enzymes were frequently raised, as were plasma ammonia, urea, and uric acid. Plasma total or free carnitine concentrations, especially non-fasting, were diminished in most cases. Plasma saturated medium chain fatty acids and particularly unsaturated cis-4-decenoate were on the other hand raised during the crises or during fasting. Urinary organic acid analysis revealed a characteristic profile of medium chain aciduria: C6-C10 dicarboxylic acids, hydroxy acids, glycine conjugates, and carnitine conjugates. Oral loading tests with carnitine or phenylpropionate allow a precise diagnosis. The diagnosis is confirmed by specific assays in various tissues. Avoidance of prolonged fasting seems to be the mainstay of treatment.
Touma
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EH
INSERM U75, Centre Hospitalo-Universitaire Necker, Paris, France.
Charpentier
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C
D044944:Acyl-CoA Dehydrogenases / Q000172:deficiency*; D001786:Blood Glucose / Q000378:metabolism; D002331:Carnitine / Q000097:blood / Q000627:therapeutic use; D002675:Child, Preschool; D005215:Fasting / Q000097:blood; D005227:Fatty Acids / Q000378:metabolism; D005260:Female; D006801:Humans; D007223:Infant; D007657:Ketone Bodies / Q000378:metabolism; D008297:Male; D011379:Prognosis; D012202:Reye Syndrome / Q000209:etiology; D013398:Sudden Infant Death / Q000209:etiology
D001786:Blood Glucose; D005227:Fatty Acids; D007657:Ketone Bodies; D044944:Acyl-CoA Dehydrogenases; D002331:Carnitine