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Hyperlysinemia

Disease Export to PDF
Name:
Hyperlysinemia
Description:
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.
ORPHAcode:
2203
Synonyms:
Hyperlysinemia type I
Lysine alpha-ketoglutarate reductase deficiency
XREF(s):
Orphanet
OMIM
OMIM
MeSH
ICD-10
Analyte(s):
AASS
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14