Biotinidase Deficiency
Pathogenesis (Biotin Recycling Disorder)
- Biotinidase deficiency or inactivity results in a failure of biotin recycling, and thus failure of breakdown of proteins, carbohydrates, and fats – it results in a build-up of biotin-dependent carboxylases.
Clinical
- Onset: Infancy – Childhood
- Neurological manifestations: DIFFUSE. Cognitive Delay, Motor Impairment, Seizures, Hearing & Vision Loss.
- System: Rash, Alopecia, Infection (Candidiasis).
Genetics
- BTD mutation.
- Autosomal recessive.
References
- Calvo, Sherri; Collins, Heather; Greenberg, Kathleen, et. al at US National Library of Medicine, Genetics Home Reference. https://ghr.nlm.nih.gov