Hyperlysinemia

Orpha code: 2203OMIM code: 238710

Definition

Hyperlysinaemia is a lysine metabolism disorder characterised by elevated levels of lysine in the cerebrospinal fluid and blood. Variable degrees of saccharopinuria are also present.

Disease data
Classification

Disease

Synonyms
Hyperlysinemia type I
Hiperlizynemia typu I
Niedobór reduktazy lizyny alfa-keto glutarowej
Lysine alpha-ketoglutarate reductase deficiency
ORPHA code
2203
OMIM code
238710
ICD10 code
E72.3
ICD11 code
5C50.4

No additional description.

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