Den här översättningen är inte klar ännu. Den här sidan är just nu på engelska.

Gå till den engelska sidan

Biotinidase deficiency

MONDO:0009665

A 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.

Follow this condition to get notified about new trials

Where it sits in the disease tree

Browse by category →
Sort by