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Hyperlysinemia
rareHyperlysinaemia is a lysine metabolism disorder characterized by elevated levels of lysine in the cerebrospinal fluid and blood. Variable degrees of saccharopinuria are also present.
- Identifiers
- MONDO:0009388 OMIM:238700Orphanet:2203
- Causal genes
- AASS
- Part of
- Inborn disorder of amino acid metabolismInborn disorder of lysine and hydroxylysine metabolism
- Also known as
- hyperlysinemia (disease) · hyperlysinemia type I · L-lysine NAD-oxido-reductase deficiency · lysine alpha-ketoglutarate reductase deficiency
Subtypes
| Disease | Subtypes |
|---|---|
| Hyperlysinemia due to defect in lysine transport into mitochondria |
Rare disease
Projects
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