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

11 clinical trials for this condition and its sub-types.

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Broader categories

Disease (680) Metabolic disease (233) Nervous system disorder (231) Hereditary disease (176) Peripheral nervous system disorder (114) Neuromuscular disease (106) Peripheral neuropathy (91) Inborn errors of metabolism (45) Human disease (14) Hereditary neurological disease (6)

Trials to join now! 8 Not yet finished but already full! 1 Completed 1 Terminated 1

Biotinidase deficiency

Broader categories

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