Case series of arginase 1 deficiency: Expanding the spectrum in hyperargininemia.

Abstract

Background: Arginase-1 deficiency is a rare, autosomal recessively inherited disorder of the urea cycle. In this study, we describe the clinical and molecular details of six patients who were diagnosed with argininemia, and we describe two of the patients with hyperargininemia who carried two novel variations of the Arginase-1 gene.

Methods: The clinical and demographic characteristics of the patients were retrospectively evaluated.

Results: The ages of the six patients ranged from 1 day to 20 years, and each patient had consanguineous parents. Neuromotor retardation and spastic paraparesis were found in all patients except one, who was diagnosed prenatally. Hyperargininemia was present in all patients. Urinary orotic acid excretion was increased in four of the six patients. The diagnosis was confirmed by genetic analysis in all the patients. Elevated liver enzymes were detected in three patients and blood urea nitrogen levels were normal in each of the six patients.

Conclusions: In this study, we describe the two patients with hyperargininemia who carried two novel variations of the ARG1 gene. Also, we present a patient with normal neurodevelopment who was diagnosed prenatally and treated at an early stage of the disease.