holocarboxylase synthetase

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hol·o·car·box·y·lase syn·the·tase

(hōl'ō-kar-boks'il-ās sin'thĕ-tās),
One of several enzymes that biotinylate other proteins (for example, carboxylases); it produces a deficiency of organic acidemia.
Farlex Partner Medical Dictionary © Farlex 2012
References in periodicals archive ?
Defects in processing of the cofactor for PCC, biotin, could in theory lead to C3-carnitine elevation, but isolated elevations of C3carnitine in patients with biotinidase deficiency or holocarboxylase synthetase deficiency have not been reported.
The patient did not show any abnormality of the [[alpha].sub.1]-AT IEF pattern and was finally diagnosed with a holocarboxylase synthetase deficiency.