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arginase deficiency
[rare autosomal recessive disorder of the urea cycle; caused by a deficiency of the hepatic enzyme type I arginase; arginine is elevated in the blood and cerebrospinal fluid, and periodic hyperammonemia may occur; disease onset is usually in infancy or early childhood; clinical manifestations include seizures, microcephaly, progressive mental impairment, hypotonia, ataxia, spastic diplegia, and quadriparesis. ( CSP )]
UMLS (CSP) C0268548- Disease or Syndrome
Relation/PAR: Amino Acid Metabolism, Inborn Errors
enzyme deficiency
inborn urea cycle disorder
enzyme deficiency
inborn urea cycle disorder
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