A Delayed Presentation of Arginase Deficiency Presenting with Status Epilepticus
Yazarlar (6)
Asburce Olgac
University of Health Sciences, Türkiye
University of Health Sciences, Türkiye
Doç. Dr. Eren YILDIZ Kastamonu Üniversitesi, Türkiye
Öğr. Gör. Arzu Yilmaz Ankara Numune Education And Research Hospital, Türkiye
Prof. Dr. Cigdem Seher Kasapkara University of Health Sciences, Türkiye
Prof. Dr. Serdar Ceylaner Intergen Genetics, Türkiye
Bulent Alioglu
Ankara Numune Education And Research Hospital, Türkiye
Ankara Numune Education And Research Hospital, Türkiye
| Makale Türü |
Diğer (Teknik, not, yorum, vaka takdimi, editöre mektup, özet, kitap krıtiği,
araştırma notu, bilirkişi raporu ve benzeri)
(SCI, SSCI, AHCI, SCI-Exp dergilerinde yayınlanan teknik not,
editöre mektup, tartışma, vaka takdimi ve özet türünden makale)
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| Dergi Adı | Journal of the College of Physicians and Surgeons Pakistan (Q3) | ||
| Dergi ISSN | 1022-386X Dergi Bilgileri (2022) | ||
| Dergi Tarandığı Indeksler | SCI-Expanded | ||
| Makale Dili | Türkçe | Basım Tarihi | 12-2022 |
| Kabul Tarihi | – | Yayınlanma Tarihi | 01-12-2022 |
| Cilt / Sayı / Sayfa | 32 / 12 / 1629–1631 | DOI | 10.29271/jcpsp.2022.12.1629 |
| Makale Linki | http://dx.doi.org/10.29271/jcpsp.2022.12.1629 | ||
| UAK Araştırma Alanları |
Çocuk Sağlığı ve Hastalıkları (Çocuk Sağlığı ve Hastalıkları)
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| Özet |
| Arginase 1 (ARG1) deficiency is a rare disorder of the urea cycle. The presentation is usually late, leading to loss of intellectual milestones, spasticity and liver involvement. Hyperammonemic crises are rarely encountered. We herein present a case of a 16-year immigrant girl of Syrian origin who was evaluated for acute onset of fever, vomiting, and seizures. Laboratory analyses showed slightly elevated lactate, creatine kinase, and coagulation parameters. Ammonium levels were also moderately increased. On 5 th day of admission, she went into an encephalopathic state. Blood amino acid analysis showed highly elevated arginine levels. An increased level of orotic acid was found in urine organic acid analysis. Molecular genetic analysis of ARG1 gene showed a novel homozygous mutation. |
| Anahtar Kelimeler |
| Argininemia | Encephalopathy | Hyperammonemia | Urea cycle disorder |
BM Sürdürülebilir Kalkınma Amaçları
| Atıf Sayıları | |
| Web of Science | 1 |
| Scopus | 1 |
| Google Scholar | 1 |