Disease - Argininemia
Definition
A rare autosomal recessive disorder of the urea cycle. Arginine is elevated in the blood and cerebrospinal fluid, and periodic hyperammonemia occurs. Clinical manifestations include developmental delay, seizures, mental retardation, hypotonia, ataxia and progressive spastic quadriplegia.
Acronym
ARGIN
Synonyms
ARG1 deficiency
Arginase-1 deficiency
Arginase deficiency
Hyperargininemia
Arginase-1 deficiency
Arginase deficiency
Hyperargininemia
Disclaimer
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