A Delayed Presentation of Arginase De ciency Presenting with Status Epilepticus | [Journal of College of Physicians and Surgeons--Pakistan : JCPSP • 2022]

Author(s):

1. Asburce Olgac: Department of Paediatric Metabolism, University of Health Sciences, Dr. Sami Ulus Maternity and Child Health Training and Research Hospital,Ankara,Turkey

2. Eren Yildiz: Department of Paediatrics, Ankara Training and Research Hospital,Ankara,Turkey

3. Arzu Yilmaz: Department of Paediatric Neurology, Ankara Training and Research Hospital,Ankara,Turkey

4. Cigdem Seher Kasapkara: Department of Paediatric Metabolism, University of Health Sciences, Dr. Sami Ulus Maternity and Child Health Training and Research Hospital,Ankara,Turkey

5. Serdar Ceylaner: Genetics, Intergen Genetic Diagnosis Centre,Ankara,Turkey

6. Bulent Alioglu: Department of Pediatric Hematology, Ankara Training and Research Hospital,Ankara,Turkey

Abstract:

Arginase 1(ARG1) de ciency 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 16year 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 5th 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 ofARG1 gene showed a novel homozygous mutation. Although the presentation of ARG1 de ciency is usually chronic in the majority of patients, an acute crisis of encephalopathy due to hyperammonemia may occur and delayed diagnosis may lead to irreversible neurological damage.

Page(s): 1629-1631

DOI: 10.1038/s41439-021-00139-9

Published: Journal: Journal of College of Physicians and Surgeons--Pakistan : JCPSP, Volume: 32, Issue: 12, Year: 2022

Keywords:

Hyperammonemia , Encephalopathy , Urea cycle disorder , Argininemia

References:

References are not available for this document.

Citations

Citations are not available for this document.

Citations

Downloads

Views