Biotinidase Deficiency

About the Disease
Biotinidase Deficiency, also known as late-onset multiple carboxylase deficiency, is related to biotin deficiency and holocarboxylase synthetase deficiency, and has symptoms including apnea, ataxia and diarrhea. An important gene associated with Biotinidase Deficiency is BTD (Biotinidase), and among its related pathways/superpathways are Metabolism and Diseases of glycosylation. The drugs Folic acid and Biotin have been mentioned in the context of this disorder. Affiliated tissues include skin, brain and eye, and related phenotypes are organic aciduria and metabolic ketoacidosis

Common Targets
BTD

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