Biotinidase deficiency
MONDO:0009665A late-onset form of multiple carboxylase deficiency, an inborn error of biotin metabolism that, if untreated, is characterized by seizures, breathing difficulties, hypotonia, skin rash, alopecia, hearing loss and delayed development.
Also known as: BTD deficiency, biotinidase deficiency, juvenile-onset multiple carboxylase deficiency, late-onset multiple carboxylase deficiency, biotin deficiency, late-onset biotin-responsive multiple carboxylase deficiency, multiple carboxylase deficiency, juvenile-onset, multiple carboxylase deficiency, late-onset
10 clinical trials for this condition and its sub-types, 3 tagged with Biotinidase deficiency itself.
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Scientists seek clues to fungal infections in immune system study
Knowledge-focused Recruiting nowThis study aims to understand why some people are more prone to fungal infections, especially from Candida yeast. Researchers will collect blood, saliva, urine, and tissue samples from people with immune disorders, their family members, and healthy volunteers. No treatment is giv…
Sponsor: National Institute of Allergy and Infectious Diseases (NIAID) • Aim: Knowledge-focused
Last updated Aug 26, 2026 00:00 UTC
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Newborn screening study aims to decode rare enzyme disorder
Knowledge-focused Recruiting nowThis study follows 180 children in Italy born with biotinidase deficiency, a rare condition that can cause skin, eye, and nerve problems if untreated. Researchers will compare each child's genetic makeup with their enzyme activity levels and health outcomes. The goal is to better…
Sponsor: IRCCS Azienda Ospedaliero-Universitaria di Bologna • Aim: Knowledge-focused
Last updated Jun 27, 2026 11:00 UTC