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hyperargininemia

Disease Summary
Associated Targets (2)
Tchem

1

Tbio

1


GARD Rare
Mondo Description Arginase deficiency is a rare autosomal recessive amino acid metabolism disorder characterized clinically by variable degrees of hyperammonemia, developing from about 3 years of age, and leading to progressive loss of developmental milestones and spasticity in the absence of treatment.
Uniprot Description 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.
Disease Ontology Description An urea cycle disorder that involves arginase deficiency resulting in elevated levels of plasma arginine.
Mondo Term and Equivalent IDs
MONDO:0008814:  hyperargininemia
GARD:0005840: 
MESH:D020162: 
NCIT:C84568: 
Orphanet:90: 
SCTID:23501004: 
UMLS:C0268548: