Authors: V. Bzdúch 1; D. Behúlová 2; K. Fabríciová 1; A. Šalingová 2; J. Šaligová 3; S. Šťastná, LehnertW. 4 5; J. O. Sass 5; L. Kozák 6; M. Benedeková 1 Authors‘ workplace: I. detská klinika Lekárskej fakulty Univerzity Komenského a Detskej fakultnej nemocnice, Bratislava1 prednostka doc. MUDr. M. Benedeková, PhD. Oddelenie klinickej biochémie Detskej fakultnej nemocnice, Bratislava2 primárka MUDr. D. Behúlová Oddelenie klin Published in: Čes-slov Pediat 2003; (7): 430-432. Category:
The deficiency in acyl-CoA dehydrogenase of fatty acids with medium chain (MCAD) belong to the mostfrequent and insidious hereditary metabolic disorders. The authors analyzed clinical symptoms, laboratoryfindings and the applied diagnostic methods in four symptomatic children with MCAD deficiency. Typical clinicalsymptoms included disorders of consciousness with hepatomegaly, vomiting, a marked hypoglycemia and decreasedvalues of free carnitine in serum. On the basis of examination of acylcarnithins from dry blood drop bymeansof tandem mass spectrometry a univocal diagnosis of MCAD deficiency was established in all patients. DNAanalysis in three children demonstrated a homozygous state for the most frequent A985G mutation. In view of thefact that two children were of Roma (gipsy) origin, the authors suppose that the Rome ethnic group may representa risk group for the occurrence of MCAD deficiency.
Key words: deficiency in acyl-CoA dehydrogenase of fatty acids with medium chain, carnitine, tandem massspectrometry, the Roma (Gipsy) ethnic group
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