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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)....

Topics

Alleles
Amidohydrolases
Base Sequence
Biotin
Biotinidase
Child
DNA Mutational Analysis
Female
Genes
Humans
Infant, Newborn
Male

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Molecular Sequence Data

Mutation

Pedigree

Polymerase Chain Reaction

Polymorphism, Single-Stranded Conformational

Source

Identifiers

PMID: 7550325
DOI: 10.1038/ng0995-96

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-7550325-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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