Biotinidase deficiency
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Biotinidase deficiency
Classification and external resources
Biotin
ICD-10 E53.8
ICD-9 277.6
OMIM 253260
DiseasesDB 29822
eMedicine ped/239
MeSH D028921
Biotinidase deficiency is an autosomal recessive metabolic disorder in which biotin is not released from proteins in the diet during digestion or from normal protein turnover in the cell. This situation results in biotin deficiency.
Biotin, sometimes called vitamin B7, is an important water-soluble nutrient that aids in the metabolism of fats, carbohydrates, and proteins. Biotin deficiency can result in behavioral disorders, lack of coordination, learning disabilities and seizures. Biotin supplementation can alleviate and sometimes totally arrest such symptoms.