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X-ADL

1 abbreviation

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Rakubioloogia terminibaas

ID 461011 Last modified 02.06.2023
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  • peamiselt meestel sagedusega 1:18,000-1:50,000 esinev haigus, mis on põhjustatud väga pikaahelaliste rasvhapete kogunemisest peroksüsoomides, sest nende lagunemine ei toimu CoA-d rasvhappele siduva ensüümi puudumise tõttu
  • A disorder of peroxisomal fatty acid beta oxidation which results in the accumulation of very long chain fatty acids in peroxisomes throughout the body. Mainly occurs in males, 1:18,000-1:50,000 frequency.
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  • Ensüümi transport peroksüsoomi puudub, sest X-kromosoomis paiknev transportvalgu geen on mutantne.
X-linked adrenoleukodystrophy
X-ADL abbreviation

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