title: Biotinidase deficiency mimicking primary immune deficiencies.
abstract: Biotinidase deficiency (BD) is an inborn metabolic disorder inherited in an autosomal recessive manner. Partially due to high consanguinity rates in Turkey, BD incidence is high in Turkey. If left untreated, neurological abnormalities including seizures, hypotonia, sensorineural deafness, alopecia, egzamatous skin rash and candidiasis may occur. Three-years-old girl was admitted to hospital with recurrent infections, candidiasis and egzamatous skin rash. Immunological evaluation was normal. Associated deafness and consanguinity of the parents suggested BD which has been proven by enzyme activity measurement. With this report, we want to emphasise that BD can be the underlying cause of recurrent infections and candidiasis.
authors.affiliation: Division of Nutrition and Metabolism, Department of Pediatrics, Cerrahpasa Medical Faculty, Istanbul, Turkey.
authors.forename: Ertugrul
authors.initials: E
authors.lastname: Kiykim
authors.affiliation: Division of Allergy and Immunology, Department of Pediatrics, Marmara University, Istanbul, Turkey.
authors.forename: Ayca
authors.initials: A
authors.lastname: Kiykim
authors.affiliation: Cerrahpasa Medical Faculty, Central Laboratory, Istanbul, Turkey.
authors.forename: Mehmet Serif
authors.initials: MS
authors.lastname: Cansever
authors.affiliation: Division of Nutrition and Metabolism, Department of Pediatrics, Cerrahpasa Medical Faculty, Istanbul, Turkey.
authors.forename: Cigdem Ayse Aktuglu
authors.initials: CA
authors.lastname: Zeybek
mesh_terms: D001710:Biotin / Q000627:therapeutic use; D028921:Biotinidase Deficiency / Q000150:complications* / Q000175:diagnosis* / Q000188:drug therapy; D002177:Candidiasis / Q000209:etiology; D002675:Child, Preschool; D003241:Consanguinity; D003872:Dermatitis / Q000209:etiology; D005260:Female; D006319:Hearing Loss, Sensorineural / Q000209:etiology; D006801:Humans; D009059:Mouth Diseases / Q000209:etiology; D012008:Recurrence; D012141:Respiratory Tract Infections / Q000209:etiology; D014421:Turkey
chemical_list: D001710:Biotin