hyperlysinemia
Findings
No curated finding names hyperlysinemia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Hyperlysinaemia is a lysine metabolism disorder characterized by elevated levels of lysine in the cerebrospinal fluid and blood. Variable degrees of saccharopinuria are also present.
Definition from the Mondo Disease Ontology (MONDO:0009388), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
63 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- ArgininuriaHPOHP:0003268
- 2 of 2 reported patients
- Frequent (30% to 79% of cases)
- Decreased CSF arginine concentrationHPOHP:0500204
- 1 of 1 reported patient
- Frequent (30% to 79% of cases)
- HomocitrullinuriaHPOHP:0034464
- 2 of 2 reported patients
- HyperactivityHPOHP:0000752
- 2 of 2 reported patients
- Occasional (5% to 29% of cases)
- HyperlysinemiaHPOHP:0002161
- 3 of 3 reported patients
- Frequent (30% to 79% of cases)
- HyperlysinuriaHPOHP:0003297
- 3 of 3 reported patients
Show the remaining 51
- CystinuriaHPOHP:0003131
- 1 of 2 reported patients
- Frequent (30% to 79% of cases)
- Decreased urine alpha-ketoglutarate concentrationHPOHP:0012403
- Frequent (30% to 79% of cases)
- Delayed speech and language developmentHPOHP:0000750
- 1 of 2 reported patients
- Frequent (30% to 79% of cases)
- EEG with spike-wave complexesHPOHP:0010850
- Frequent (30% to 79% of cases)
- Floppy infantHPOHP:0008947
- Frequent (30% to 79% of cases)
- Global developmental delayHPOHP:0001263
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- AASSHGNC:17366
- Definitive · ClinGen · Autosomal recessive · 2022
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · G2P · Autosomal recessive · 2017
- Moderate · Ambry Genetics · Autosomal recessive · 2018
- Moderate · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
3 names
Resolves to: hyperlysinemia
- Also called
- hyperlysinemia (disease)hyperlysinemia type Ilysine alpha-ketoglutarate reductase deficiency