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deficit karboxylázy, mnohopočetný

  1. Record numberd009100
    Date06.06.2025
    TypeM
    Topical termdeficit karboxylázy, mnohopočetný
    Other termEnglish (Pseudonym) Carboxylase Deficiency, Multiple
    English (Pseudonym) Combined Carboxylase Deficiency
    Slovak (Pseudonym) deficit karboxylázový mnohopočetný
    Slovak (Pseudonym) deficit karboxylázy, kombinovaný
    Slovak (Pseudonym) deficit karboxylázový kombinovaný
    See also(Later heading) biotín
    (Skutočné meno) biotín
    (Later heading) biotinidáza
    UDCC16.320.565.100.620C16.320.565.202.720C18.452.648.100.620C18.452.648.202.720
    NoteA deficiency in the activities of biotin-dependent enzymes (propionyl-CoA carboxylase, methylcrotonyl-CoA carboxylase, and PYRUVATE CARBOXYLASE) due to one of two defects in BIOTIN metabolism. The neonatal form is due to HOLOCARBOXYLASE SYNTHETASE DEFICIENCY. The late-onset form is due to BIOTINIDASE DEFICIENCY.
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