MCAD Deficiency - Our Experience with Four Symptomatic Patients
Bzdúch V.1, Behúlová D.2, Fabriciová K.1, Šalingová A.2, Šaligová J.3,Šťastná S.4, LehnertW.5, Sass J. O.5, Kozák L.6, Benedeková M.1
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 klinickej biochémie Detskej nemocnice, Košice3 primárka MUDr. J. Šaligová Ústav dědičných poruch metabolismu, Praha4 prednosta prof. MUDr. M. Elleder, DrSc. University Children’s Hospital, Freiburg5 prednosta prof. M. Brandis Centrum molekulární biologie a genové terapie, IHOK, Fakultní nemocnice, Brno6 prednosta prof. MUDr. J. Vorlíček, CSc. |
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Summary:
The deficiency in acyl-CoA dehydrogenase of fatty acids with medium chain (MCAD) belong to the most
frequent and insidious hereditary metabolic disorders. The authors analyzed clinical symptoms, laboratory
findings and the applied diagnostic methods in four symptomatic children with MCAD deficiency. Typical clinical
symptoms included disorders of consciousness with hepatomegaly, vomiting, a marked hypoglycemia and decreased
values of free carnitine in serum. On the basis of examination of acylcarnithins from dry blood drop bymeans
of tandem mass spectrometry a univocal diagnosis of MCAD deficiency was established in all patients. DNA
analysis in three children demonstrated a homozygous state for the most frequent A985G mutation. In view of the
fact that two children were of Roma (gipsy) origin, the authors suppose that the Rome ethnic group may represent
a risk group for the occurrence of MCAD deficiency.
Key words:
deficiency in acyl-CoA dehydrogenase of fatty acids with medium chain, carnitine, tandem mass
spectrometry, the Roma (Gipsy) ethnic group
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