DOI: http://dx.doi.org/10.18203/2349-3291.ijcp20212490

Case report of early biotinidase deficiency, a type of multiple carboxylase deficiency

Cheruku Rajesh, N. Shivaramakrishna Babji, Mohammed Ashraf Mohiddin Siddiq

Abstract


Early biotinidase deficiency is an inherited form of multiple carboxylase deficiency leading to increased accumulation of biocytin and decreased biotin, predominantly effecting the central nervous system and skin. The symptoms can be reversed by early biotin supplementation.


Keywords


Biotinidase deficiency, Seizures, Skin rash, Developmental delay, Alopecia

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References


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