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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
H H+ H1 HA HB HC HD HE HF HG HH HI HK HL HM HN HO HP HQ HR HS HT HU HV HX HY HZ
HYA HYB HYC HYD HYG HYH HYK HYM HYO HYP HYS HYT

hyperlysinemia

[A group of inherited metabolic disorders which have in common elevations of serum LYSINE levels. Enzyme deficiencies of alpha-aminoadipic semialdehyde dehydrogenase and the SACCHAROPINE DEHYDROGENASES have been associated with hyperlysinemia. Clinical manifestations include mental retardation, recurrent emesis, hypotonia, lethargy, diarrhea, and developmental delay. (From Menkes, Textbook of Child Neurology, 5th ed, p56) ( MSH )]
UMLS (CSP) C0268553
 
Disease or Syndrome
Relation/PAR: Amino Acid Metabolism, Inborn Errors

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