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CASE REPORT
Year : 2021  |  Volume : 15  |  Issue : 3  |  Page : 74-76

An unusual case of biotinidase deficiency with fingertip desquamation


1 Department of Pediatric Metabolic Diseases, Ankara Dr. Sami Ulus Children’s Hospital, Ankara, Turkey
2 Department of Pediatric Metabolic Diseases, Van Bölge Training and Research Hospital, Van, Turkey
3 Department of Pediatric Metabolic Diseases, Hacettepe University, Ankara, Turkey
4 Department of Pediatric Metabolic Diseases, Ankara Yıldırım Beyazıt University, MD, Ankara, Turkey

Correspondence Address:
Dr. Asburçe Olgac
Division of Metabolism, Pediatric Metabolic Unit, Dr. Sami Ulus Children’s Hospital, Ankara.
Turkey
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/tjd.tjd_34_21

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Biotinidase deficiency (BD) is an autosomal recessively inherited inborn error of metabolism that causes multisystemic manifestations, including developmental delay, seizures, hypotonia, vision problems, hearing loss, ketolactic acidosis, and various cutaneous findings at the early stages of life. Treatment consists of oral biotin that is effective in the prevention of complications. We present a case of a 4-year-old boy with partial BD with fingertip desquamation that could be resolved by increasing biotin dosage.


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