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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
I I- I0 I1 I2 I3 I4 I5 I6 I7 I8 I9 IA IB IC ID IE IF IG IH II IK IL IM IN IO IP IQ IR IS IT IU IV IX
IS ISA ISB ISC ISD ISE ISG ISI ISL ISM ISO ISP ISR ISS IST ISU ISW

isovaleric acidemia

[autosomal recessive aminoacidopathy due to deficiency of isovaleryl-CoA dehydrogenase, with elevated plasma isovaleric acid and urinary isovaleric acid and isovalerylglycine, causing a characteristic odor of sweaty feet; clinical signs include severe acidosis and ketosis, lethargy, convulsions, pernicious vomiting, thrombocytopenia, neutropenia, and pancytopenia. ( CSP )]
UMLS (CSP) C0268575
 
Disease or Syndrome
Relation/PAR: Amino Acid Metabolism, Inborn Errors
enzyme deficiency
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