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

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

doi:10.18203/2349-3291.ijcp20212490

Authors

Cheruku Rajesh Department of Pediatrics, Mamata Medical College and Hospital, Khammam, Telangana, India http://orcid.org/0000-0002-2466-7294
N. Shivaramakrishna Babji Department of Pediatrics, Mamata Medical College and Hospital, Khammam, Telangana, India
Mohammed Ashraf Mohiddin Siddiq Department of Pediatrics, Mamata Medical College and Hospital, Khammam, Telangana, India

DOI:

https://doi.org/10.18203/2349-3291.ijcp20212490

Keywords:

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

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.

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Author Biography

Cheruku Rajesh, Department of Pediatrics, Mamata Medical College and Hospital, Khammam, Telangana, India

junior resident,department of paediatrics,mamata medical college and hospital,khammam.

References

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