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
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice.
