Biotinidase Deficiency (BTD DEFICIENCY)

Biotinidase Deficiency(来自ICD-11)

别称:

Late-Onset Multiple Carboxylase Deficiency

Btd Deficiency

Multiple Carboxylase Deficiency, Juvenile-Onset

Juvenile-Onset Multiple Carboxylase Deficiency

Multiple Carboxylase Deficiency, Late-Onset

Late-Onset Biotin-Responsive Multiple Carboxylase Deficiency

Carboxylase Deficiency, Multiple, Late-Onset

Multiple Carboxylase Deficiency, Late Onset

Deficiency of Biotinidase

Biotin Deficiency Disease

Biotin Deficiency

Mcd Juvenile Form

Late-Onset Mcd

Biot

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Biotinidase Deficiency, also known as late-onset multiple carboxylase deficiency, is related to biotin deficiency and metabolic acidosis, 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 Fatty acid metabolism. The drugs Biotin and Folic acid have been mentioned in the context of this disorder. Affiliated tissues include skin and brain, and related phenotypes are organic aciduria and metabolic ketoacidosis

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