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| Content Provider | World Health Organization (WHO)-Global Index Medicus |
|---|---|
| Author | Cansever, Mehmet Serif Zeybek, Cigdem Ayse Aktuglu Kiykim, Ayca Kiykim, Ertugrul |
| Spatial Coverage | Turkey |
| Description | Author Affiliation: Kiykim E ( Division of Nutrition and Metabolism, Department of Pediatrics, Cerrahpasa Medical Faculty, Istanbul, Turkey.); Kiykim A ( Division of Allergy and Immunology, Department of Pediatrics, Marmara University, Istanbul, Turkey.); Cansever MS ( Cerrahpasa Medical Faculty, Central Laboratory, Istanbul, Turkey.); Zeybek CA ( Division of Nutrition and Metabolism, Department of Pediatrics, Cerrahpasa Medical Faculty, Istanbul, Turkey.) |
| 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. |
| Volume Number | 2015 |
| e-ISSN | 1757790X |
| Journal | BMJ Case Reports |
| Language | English |
| Publisher | BMJ Publishing Group Ltd. |
| Publisher Place | Great Britain (UK) |
| Access Restriction | One Nation One Subscription (ONOS) |
| Subject Keyword | Biotinidase Deficiency Complications Diagnosis Biotin Therapeutic Use Drug Therapy Candidiasis Etiology Child, Preschool Consanguinity Dermatitis Female Hearing Loss, Sensorineural Humans Mouth Diseases Recurrence Respiratory Tract Infections Turkey Case Reports Journal Article Multidisciplinary |
| Content Type | Text |
| Resource Type | Article |
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