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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

arginosuccinate lyase deficiency

[autosomal recessive aminoacidopathy characterized by urinary excretion of argininosuccinic acid, due to a deficiency of argininosuccinate lyase, with hyperammonemia, argininosuccinicacidemia, and citrullinemia; clinical findings include mental retardation, seizures, ataxia, hepatomegaly, and friable hair. ( CSP )]
UMLS (CSP) C0596122
 
Pathologic Function
Relation/PAR: enzyme deficiency
inborn urea cycle disorder
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