" /> Hyperlysinaemia - CISMeF





Preferred Label : Hyperlysinaemia;

ICD-11 definition : Hyperlysinaemia is a lysine metabolism disorder characterised by elevated levels of lysine in the cerebrospinal fluid and blood that is not associated with a clinical phenotype, although it was sometimes believed to present with neurological problems and intellectual deficit.;

ICD-11 synonym : Lysine alpha-ketoglutarate reductase deficiency; Alpha-aminoadipic semialdehyde deficiency;

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Hyperlysinaemia is a lysine metabolism disorder characterised by elevated levels of lysine in the cerebrospinal fluid and blood that is not associated with a clinical phenotype, although it was sometimes believed to present with neurological problems and intellectual deficit.

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26/07/2025


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