Serum free carnitine in medium chain acyl-CoA dehydrogenase deficiency.
Medium chain acyl-CoA dehydrogenase (MCAD) deficiency is the most common disorder of fatty acid beta-oxidation and presents acutely with hypoglycemia, or a Reye-like illness with low free carnitine, often provoked by an infection or an excessive period of fasting. After acute attack these children are for the most time asymptomatic and may have normal plasma free carnitine concentrations. We observed a regularity in time course of serum free carnitine concentration during two attacks of Reye-like illness in patient with MCAD deficiency. Molecular investigation confirmed that the patient was homozygote for A985G mutation. Free carnitine was measured by enzymatic UV-test. First attack of severe hypoglycemia and Reye-like symptoms started at the age of 15 months and the second at the age of 25 months. In both episodes, treatment with intravenous glucose was given immediately, but without carnitine supplementation. Between the attacks patient was on a normal diet. In both attacks, low serum free carnitine concentration from the time of acute attack continually decreased for up to 8-13 days and then normalized at about 25 days after attack. We think that the time course of serum free carnitine may help in knowledge about carnitine depletion in MCAD deficiency. This is the first observation of this pattern during an acute attack and needs to be confirmed by other patients with MCAD deficiency. (Fig. 2, Ref. 7.).
Bzduch
V
V
1st Department of Pediatrics, Comenius University Children's Hospital, Bratislava, Slovakia. bzduch@inmail.sk
Behulova
D
D
Salingova
A
A
Ponec
J
J
Fabriciova
K
K
Kozak
L
L
D042964:Acyl-CoA Dehydrogenase / Q000172:deficiency*; D002331:Carnitine / Q000097:blood*; D002675:Child, Preschool; D006801:Humans; D008297:Male; D012202:Reye Syndrome / Q000175:diagnosis / Q000378:metabolism / Q000628:therapy
D042964:Acyl-CoA Dehydrogenase; D002331:Carnitine