Neurol. pro Praxi, 2006; 2: 84-89

X-viazaná adrenoleukodystrofia – najčastejšia dedičná metabolická porucha peroxizómov

doc. MUDr. Ján Chándoga, CSc., RNDr. Robert Petrovič
Centrum lekárskej genetiky FNsP Bratislava

X-viazaná adrenoleukodystrofia (X-ALD) je najčastejšie dedičné peroxizómové ochorenie vyznačujúce sa dedičnosťou viazanou na chromozóm X. Toto ochorenie s veľkou fenotypovou variabilitou sa plne manifestuje u mužov, ale miernejšie formy postihnutia sa vyskytujú aj u žien. Hlavným patobiochemickým znakom tohto ochorenia je akumulácia karboxylových (mastných) kyselín s veľmi dlhým reťazcom – VLCFA v tkanivách centrálneho nervového systému, periférnych nervov, nadobličiek a v telových tekutinách. Gén ABCD1 zodpovedný za X-ALD je zložený z 10 exónov a kóduje peroxizómový membránový proteín pozostávajúci zo 745 aminokyselín. Diagnostiku X-ALD pomocou zobrazovacích techník (MR, CT), neurofyziologických vyšetrení, je potrebné doplniť o biochemické vyšetrenie (zvýšenie VLCFA v plazme) a molekulárno-genetické analýzy (identifikácia mutácie v ABCD1 géne), ktoré sú v SR dostupné v Centre lekárskej genetiky FNsP Bratislava.

Keywords: Kľúčové slová: adrenoleukodystrofia, adrenomyeloneuropatia, VLCFA, peroxizómy.

Published: May 1, 2006  Show citation

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Chándoga J, Petrovič R. X-viazaná adrenoleukodystrofia – najčastejšia dedičná metabolická porucha peroxizómov. Neurol. praxi. 2006;7(2):84-89.
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