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Argininemia presenting with progressive spastic diplegia.

Beom Hee Lee¹, Hye Young Jin, Gu-Hwan Kim

¹Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Korea.

Pediatric Neurology

|February 12, 2011

Summary

Argininemia, a rare urea cycle disorder, typically presents with progressive neurological issues like spastic diplegia, not hyperammonemia. This case highlights the need to consider argininemia in diagnosing such neurological symptoms, even in new populations.

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Area of Science:

Biochemistry
Genetics
Neurology

Background:

Argininemia results from arginase 1 deficiency, impacting the urea cycle.
Unlike other urea cycle disorders, it rarely causes hyperammonemic encephalopathy.
Neurological symptoms, particularly spastic diplegia, are more common and insidiously progressive.

Observation:

This report details the first Korean patient with argininemia.
The patient presented with insidious, slowly progressive spastic diplegia.

Findings:

The patient harbors compound heterozygous mutations in the ARG1 gene: c.[32T>C] (p.[Ile11Thr]) and a novel c.[913G>A] (p.[Gly305Arg]).
This case expands the known mutational spectrum of the ARG1 gene.

Implications:

Argininemia should be considered in the differential diagnosis of progressive spastic diplegia, even in previously unreported populations.
Increased awareness can lead to earlier diagnosis and management of this rare genetic disorder.