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

Rare Disease

saccharopinuria

MONDO:0010005

Also known as:hyperlysinemia type IIsaccharopine dehydrogenase deficiencyAlpha-aminoadipic semialdehyde synthase deficiency

Overview

Saccharopinuria is a disorder of lysine metabolism associated with hyperlysinaemia and lysinuria.

GeneticsAutosomal recessive

ResearchLimited published research (5 articles)

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: Elevated urinary saccharopine level. 9 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	2	Spastic diplegia, Intellectual disability
Kidneys and urinary system

Prognosis

Phenotype severity distribution: 1 always present feature.

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 saccharopinuria.

5 publications have been identified in PubMed for saccharopinuria. Research spans Review / Meta-Analysis (40%), Gene Therapy / Novel Therapeutics (40%), and Basic Science / Preclinical (20%).

Recent Publications

Valderrama GV (2025). [PMID: 41194801](https://pubmed.ncbi.nlm.nih.gov/41194801/). *Front Mol Neurosci*. [Review / Meta-Analysis]
van Karnebeek CDM (2025). [PMID: 41221123](https://pubmed.ncbi.nlm.nih.gov/41221123/). *Brain Commun*. [Gene Therapy / Novel Therapeutics]
Segur-Bailach E (2025). [PMID: 40682274](https://pubmed.ncbi.nlm.nih.gov/40682274/). *Mol Ther*. [Gene Therapy / Novel Therapeutics]
Schuurmans IME (2025). [PMID: 41158987](https://pubmed.ncbi.nlm.nih.gov/41158987/). *Mol Ther Nucleic Acids*. [Basic Science / Preclinical]
Marinella G (2024). [PMID: 38991296](https://pubmed.ncbi.nlm.nih.gov/38991296/). *Seizure*. [Review / Meta-Analysis]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 4:28 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:268700

Orphanet

European rare disease database

Orphanet:3124

GARD

Genetic and Rare Diseases Info Center

GARD:314

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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saccharopinuria

Overview

Clinical Presentation

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

Questions for Your Care Team

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