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Article

Mutational hotspot in the human biotinidase gene causes profound biotinidase deficiency.

Nature genetics - 1 Sept 1995

Pomponio R J, Reynolds T R, Cole H, Buck G A, Wolf B

Abstract excerpt

Biotinidase deficiency is an autosomal recessive inherited disorder that is characterized by neurological and cutaneous symptoms. Biotinidase-deficient children cannot recycle endogenous biotin, an essential water-soluble B vitamin. Biotin is covalently attached to epsilon-amino groups of lysyl residues of four carboxylases. These carboxylases are subsequently degraded to biocytin (biotin-epsilon-lysine)....

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PMID: 7550325
DOI: 10.1038/ng0995-96

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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