A Patient Diagnosed with Li-Campeau Syndrome and Biotinidase Deficiency
Biotinidase (BTD) enzyme deficiency is a congenital metabolic disorder with autosomal recessive inheritance. Main symptoms in its deficiency are nervous system and skin manifestations. A 15-month-old patient who was diagnosed with Li-Campeau syndrome, was also diagnosed with BTD deficiency and his c...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Galenos Publishing House
2023-09-01
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| Series: | The Journal of Pediatric Academy |
| Subjects: | |
| Online Access: | https://jpediatricacademy.com/index.php/jpa/article/view/221 |
| _version_ | 1797672710977880064 |
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| author | Müjgan Arslan Halil Özbaş Şeyma Karakoç Rüveyda Menekşe Karataş |
| author_facet | Müjgan Arslan Halil Özbaş Şeyma Karakoç Rüveyda Menekşe Karataş |
| author_sort | Müjgan Arslan |
| collection | DOAJ |
| description | Biotinidase (BTD) enzyme deficiency is a congenital metabolic disorder with autosomal recessive inheritance. Main symptoms in its deficiency are nervous system and skin manifestations. A 15-month-old patient who was diagnosed with Li-Campeau syndrome, was also diagnosed with BTD deficiency and his clinic rapidly improved with biotin treatment. With the awareness of different clinical presentations of BTD deficiency, patients presenting with clinical symptoms raising the suspicion of this disorder must be evaluated for enzyme activity and genetic analysis must be planned. It is of great importance to keep in mind the possibility of this rare but treatable neurometabolic disorder, even in countries with neonatal screening programme and include it in differential diagnoses in order to prevent irreversible symptoms. |
| first_indexed | 2024-03-11T21:34:10Z |
| format | Article |
| id | doaj.art-be5aabc7edcf4488a690b6474b215330 |
| institution | Directory Open Access Journal |
| issn | 2718-0875 |
| language | English |
| last_indexed | 2024-03-11T21:34:10Z |
| publishDate | 2023-09-01 |
| publisher | Galenos Publishing House |
| record_format | Article |
| series | The Journal of Pediatric Academy |
| spelling | doaj.art-be5aabc7edcf4488a690b6474b2153302023-09-27T06:03:25ZengGalenos Publishing HouseThe Journal of Pediatric Academy2718-08752023-09-014311311610.4274/jpea.2023.221171A Patient Diagnosed with Li-Campeau Syndrome and Biotinidase DeficiencyMüjgan Arslan0https://orcid.org/0000-0002-0486-3431Halil Özbaş1https://orcid.org/0000-0002-7561-1450Şeyma Karakoç2https://orcid.org/0000-0002-3005-0661Rüveyda Menekşe Karataş3https://orcid.org/0000-0002-4229-0996Süleyman Demirel University Faculty of Medicine, Department of Pediatric Neurology, Isparta, TurkeySüleyman Demirel University Faculty of Medicine, Department of Genetics, Isparta, TurkeySüleyman Demirel University Faculty of Medicine, Department of Pediatrics, Isparta, TurkeySüleyman Demirel University Faculty of Medicine, Department of Pediatrics, Isparta, TurkeyBiotinidase (BTD) enzyme deficiency is a congenital metabolic disorder with autosomal recessive inheritance. Main symptoms in its deficiency are nervous system and skin manifestations. A 15-month-old patient who was diagnosed with Li-Campeau syndrome, was also diagnosed with BTD deficiency and his clinic rapidly improved with biotin treatment. With the awareness of different clinical presentations of BTD deficiency, patients presenting with clinical symptoms raising the suspicion of this disorder must be evaluated for enzyme activity and genetic analysis must be planned. It is of great importance to keep in mind the possibility of this rare but treatable neurometabolic disorder, even in countries with neonatal screening programme and include it in differential diagnoses in order to prevent irreversible symptoms.https://jpediatricacademy.com/index.php/jpa/article/view/221biotinidase deficiencypartialclinical findingstreatment |
| spellingShingle | Müjgan Arslan Halil Özbaş Şeyma Karakoç Rüveyda Menekşe Karataş A Patient Diagnosed with Li-Campeau Syndrome and Biotinidase Deficiency The Journal of Pediatric Academy biotinidase deficiency partial clinical findings treatment |
| title | A Patient Diagnosed with Li-Campeau Syndrome and Biotinidase Deficiency |
| title_full | A Patient Diagnosed with Li-Campeau Syndrome and Biotinidase Deficiency |
| title_fullStr | A Patient Diagnosed with Li-Campeau Syndrome and Biotinidase Deficiency |
| title_full_unstemmed | A Patient Diagnosed with Li-Campeau Syndrome and Biotinidase Deficiency |
| title_short | A Patient Diagnosed with Li-Campeau Syndrome and Biotinidase Deficiency |
| title_sort | patient diagnosed with li campeau syndrome and biotinidase deficiency |
| topic | biotinidase deficiency partial clinical findings treatment |
| url | https://jpediatricacademy.com/index.php/jpa/article/view/221 |
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