Argininosuccinic acidemia

Matthias Zielonka MD (

Dr. Zielonka of University Children’s Hospital Heidelberg has no relevant financial relationships to disclose.

)
Stefan Kolker MD (

Dr. Kolker of the Center of Pediatrics and Adolescent Medicine, University Hospital Heidelberg has no relevant financial relationships to disclose.

)
Barry Wolf MD PhD, editor. (Dr. Wolf of Lurie Children's Hospital of Chicago has no relevant financial relationships to disclose.)
Originally released April 24, 1995; last updated May 12, 2020; expires May 12, 2023

This article includes discussion of argininosuccinic acidemia, argininosuccinase deficiency, and argininosuccinic aciduria. The foregoing terms may include synonyms, similar disorders, variations in usage, and abbreviations.

Overview

Argininosuccinic aciduria is an inherited urea cycle disorder caused by argininosuccinic acid lyase deficiency. Patients can present with hyperammonemic encephalopathy at any age, resulting in brain damage or even death if treatment is inadequate or delayed. Patients may also develop hepatomegaly, progressive liver fibrosis, and liver function abnormalities, but they can also present with intellectual disabilities only. The disease can be detected by tandem mass spectrometry-based newborn screening. Treatment consists of low-protein diet, nitrogen scavengers, and L-arginine. Liver transplantation prevents the production of toxic metabolites in the liver, but not in nonhepatic tissues. The authors discuss a novel model that predicts clinical severity using the in vitro residual enzyme activity of argininosuccinate lyase as biomarker.

Historical note and terminology

Argininosuccinic acidemia was first described in 1958 by Allan and colleagues (Allan et al 1958). Its name derives from the marked elevation of argininosuccinic acid in blood of affected individuals. This disorder has also been called argininosuccinic aciduria because of the increased excretion of argininosuccinic acid in urine, and argininosuccinate lyase deficiency to denote its enzyme deficiency.

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