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UMLS. CSP-HL7-ICD9CM-NCI-NDFRT-RXNORM
%
A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
A A A+ A- A0 A1 A2 A3 A4 A5 A6 A7 A8 A9 AA AB AC AD AE AF AG AH AI AJ AK AL AM AN AO AP AQ AR AS AT AU AV AW AX AY AZ
AR AR- ARA ARB ARC ARE ARF ARG ARH ARI ARM ARN ARO ARQ ARR ARS ART ARY ARZ

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
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