" /> Hypervalinaemia - CISMeF





Preferred Label : Hypervalinaemia;

ICD-11 definition : This is a rare autosomal recessive metabolic disorder in which urinary and serum levels of the branched-chain amino acid valine are elevated, without related elevation of the branched-chain amino acids leucine and isoleucine.;

ICD-11 synonym : Valine transaminase deficiency; Valinaemia;

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This is a rare autosomal recessive metabolic disorder in which urinary and serum levels of the branched-chain amino acid valine are elevated, without related elevation of the branched-chain amino acids leucine and isoleucine.

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26/07/2025


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