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Article

Management of a patient with holocarboxylase synthetase deficiency.

Molecular genetics and metabolism - 1 Dec 2008

Van Hove Johan L K, Josefsberg Sagi, Freehauf Cynthia, Thomas Janet A, Thuy Le Phuc, Barshop Bruce A, Woontner Michael, Mock Donald M, Chiang Pei-Wen, Spector Elaine, Meneses-Morales Iván, Cervantes-Roldán Rafael, León-Del-Río Alfonso

Abstract excerpt

We investigated in a patient with holocarboxylase synthetase deficiency, the relation between the biochemical and genetic factors of the mutant protein with the pharmacokinetic factors of successful biotin treatment. A girl exhibited abnormal skin at birth, and developed in the first days of life neonatal respiratory distress syndrome and metabolic abnormalities diagnostic of multiple carboxylase deficiency....

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Identifiers

PMID: 18974016
DOI: 10.1016/j.ymgme.2008.09.006
PMCID: PMC2630166

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