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hyperdibasic aminoaciduria type 1 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hyperdibasic aminoaciduria type 1

MONDO:0009108

Also known as:dibasic amino aciduria type 1dibasic amino aciduria 1dibasic amino aciduria I

Overview

Hyperdibasic aminoaciduria, type 1 is characterized by increased renal clearance of lysine, ornithine and arginine, in the presence of normal concentrations of cystine. Heterozygous individuals are asymptomatic but homozygotes display intellectual deficit. To date, 25 heterozygotes and one homozygote have been reported.

GeneticsAutosomal recessive

ResearchLimited published research (1 article)

Clinical Presentation

Features include: Argininuria, Ornithinuria, Malabsorption, and Dibasicaminoaciduria and 2 more.

Organ System	Phenotype Count	Example Features
Digestive system	1	Malabsorption
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 hyperdibasic aminoaciduria type 1.

1 publication has been identified in PubMed for hyperdibasic aminoaciduria type 1. Research spans Basic Science / Preclinical (100%).

Recent Publications

Giroud-Gerbetant J (2025). [PMID: 39881295](https://pubmed.ncbi.nlm.nih.gov/39881295/). *Molecular medicine (Cambridge, Mass.)*. [Basic Science / Preclinical]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 6:44 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:222690

Orphanet

European rare disease database

Orphanet:1032

GARD

Genetic and Rare Diseases Info Center

GARD:1854

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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hyperdibasic aminoaciduria type 1

Overview

Clinical Presentation

Explore clinical features

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team