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hyperlysinemia due to defect in lysine transport into mitochondria - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hyperlysinemia due to defect in lysine transport into mitochondria

MONDO:0009389

Overview

GeneticsAutosomal recessive

ResearchLimited published research (1 article)

Clinical Presentation

Features include: Mitochondrial lysine transport defect, Hyperlysinemia, and Intellectual disability.

Organ System	Phenotype Count	Example Features
Brain and nerves	1	Intellectual disability

Explore clinical features

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 due to defect in lysine transport into mitochondria.

1 publication has been identified in PubMed for hyperlysinemia due to defect in lysine transport into mitochondria. Research spans Review / Meta-Analysis (100%).

Recent Publications

Erdal R (2025). [PMID: 40710547](https://pubmed.ncbi.nlm.nih.gov/40710547/). *Metabolites*. [Review / Meta-Analysis]

Data assembled from 4 of 12 sources · Last updated Sep 17, 2026, 9:52 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:238710

GARD

Genetic and Rare Diseases Info Center

GARD:15183

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 due to defect in lysine transport into mitochondria

Overview

Clinical Presentation

Explore clinical features

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team