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hyperlysinemia - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hyperlysinemia

MONDO:0009388

Also known as:hyperlysinemia (disease)hyperlysinemia type Ilysine alpha-ketoglutarate reductase deficiency

Overview

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.

GeneticsAutosomal recessive · AASS (chr 7)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Ornithinuria, Hyperlysinuria, Hyperlysinemia, and Hypoornithinemia and others; and common findings: Mild intellectual disability, Seizure, Cystinuria, and Short attention span and others. 23 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	6	Mild intellectual disability, Seizure, Difficulty with thinking and memory (cognitive impairment)

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

AASS encodes aminoadipate-semialdehyde synthase (926 aa). Bifunctional enzyme that catalyzes the first two steps in lysine degradation Highest expression in Nerve Tibial (87.0 TPM) and Ovary (85.7 TPM).

Hyperlysinemia is caused by mutations in the AASS gene on chromosome 7.

The AASS protein participates in saccharopine + NAD+ + H2O = alpha-aminoadipic semialdehyde + glutamate + NADH + H+ pathway.

AASS is classified as a druggable target (Enzyme category) with score 0.0.

15 pathogenic variants reported in AASS in ClinVar.

Diagnosis

Genetic testing for AASS is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for hyperlysinemia has been reported in the published literature.

Prognosis

Phenotype severity distribution: 9 always present features, 9 common features.

Estimated prevalence: Unknown (Unknown prevalence).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for hyperlysinemia.

10 publications have been identified in PubMed for hyperlysinemia. Research spans Gene Therapy / Novel Therapeutics (50%), Review / Meta-Analysis (30%), and Diagnostic / Biomarker (10%).

Research Type	Count	% of Total
New treatment approaches	5	50%

Data assembled from 8 of 12 sources · Last updated Sep 19, 2026, 1:52 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:238700

Orphanet

European rare disease database

Orphanet:2203

GARD

Genetic and Rare Diseases Info Center

GARD:2828

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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hyperlysinemia

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

hyperlysinemia

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications