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Arginase deficiency

Disease ArgentaffinomaArgininosuccinic aciduria

Arginase deficiency
Overview
A very rare urea cycle disorder caused by a deficiency of the enzyme (arginase) needed to convert ammonia to the urea which can then be removed in the urine.

 


Arginase Deficiency
National Organization for Rare Disorders, Inc.
Synonyms ...

Arginase deficiency usually becomes evident by about the age of 3. It most often appears as stiffness, especially in the legs, caused by abnormal tensing of the muscles (spasticity).

Arginase Deficiency see Urea Cycle disorders
Argininosuccinate Lyase Deficiency see Urea Cycle disorders
Argininosuccinate Synthase Deficiency see Urea Cycle disorders
Argininosuccinic Aciduria see Urea Cycle disorders ...

Arginase Deficiency
Argininemia
Arginino Succinase Deficiency
Argininosuccinate Lyase Deficiency
Argininosuccinic Aciduria
arginosuccinate synthetase deficiency
arginosuccinic acid synthetase deficiency
Arginyl-tRNA Synthetase 2 (RARS2 ...

Arginase deficiency ... progressive mental retardation, growth failure
Arginine-glycine amidinotransferase deficiency ... developmental delay, mental retardation, psychomotor retardation
Argininosuccinase lyase deficiency, neonatal ...

Argininosuccinic aciduria
Arginase deficiency
Carbamyl phosphate synthetase (CPS) deficiency
Citrullinemia
N-acetyl glutamate synthetase deficiency (NAGS)
Ornithine transcarbamylase deficiency (OTC) ...

include carbamoyl phosphate synthase (CPS) deficiency, ornithine transcarbamylase (OTC) deficiency, argininosuccinate synthetase deficiency (citrullinemia), argininosuccinate lyase deficiency (argininosuccinic aciduria), and arginase deficiency ...

See also: Deficiency, Symptom, Argininosuccinic aciduria, Kidney, Cancer

Disease ArgentaffinomaArgininosuccinic aciduria

 
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