Article
Biotinidase biochemical and molecular analyses: Experience at a large reference laboratory.
Pediatrics international : official journal of the Japan Pediatric Society - 1 Jan 2000
Sharma Rajesh, Kucera Cathlin R, Nery Camille R, Lacbawan Felicitas L, Salazar Denise, Tanpaiboon Pranoot
Abstract excerpt
BACKGROUND: Biotinidase deficiency is caused by absent activity of the biotinidase, encoded by the biotinidase gene (BTD). Affected individuals cannot recycle the biotin, leading to heterogeneous symptoms that are primarily neurological and cutaneous. Early treatment with biotin supplementation can prevent irreversible neurological damage and is recommended for patients with profound deficiency, defined as enzyme...
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