A Delayed Presentation of Arginase Deficiency Presenting with Status Epilepticus

OpenAlex İngilizce

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 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 of ARG1 gene showed a novel homozygous mutation. Although the presentation of ARG1 deficiency 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. Key Words: Urea cycle disorder, Hyperammonemia, Argininemia, Encephalopathy.