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dicarboxylic aminoaciduria - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

dicarboxylic aminoaciduria

MONDO:0009110

Also known as:glutamate-aspartate transport defectDCBXADicarboxylicaminoaciduria

Overview

Dicarboxylicaminoaciduria is characterized by infantile-onset hypoglycaemia and hyperprolinaemia associated, in certain cases, with intellectual deficit.

GeneticsAutosomal recessive · SLC1A1 (chr 9)

OnsetADULT

ResearchLimited published research (4 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: Aspartic aciduria; and common findings: Nephrolithiasis. 5 total HPO annotations.

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

Genetic Landscape

SLC1A1 function has not been fully characterized.

Dicarboxylic aminoaciduria has limited evidence linking it to mutations in the SLC1A1 gene on chromosome 9.

Diagnosis

Genetic testing for SLC1A1 is available. Testing is considered research-grade for diagnosis.

Prognosis

Phenotype severity distribution: 1 always present feature, 1 common feature.

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 dicarboxylic aminoaciduria.

4 publications have been identified in PubMed for dicarboxylic aminoaciduria. Research spans Basic Science / Preclinical (50%), Review / Meta-Analysis (25%), and Gene Therapy / Novel Therapeutics (25%).

Recent Publications

Koochaki P (2025). [PMID: 40672197](https://pubmed.ncbi.nlm.nih.gov/40672197/). *bioRxiv : the preprint server for biology*. [Gene Therapy / Novel Therapeutics]
Zuschlag Y (2025). [PMID: 40308755](https://pubmed.ncbi.nlm.nih.gov/40308755/). *Frontiers in pharmacology*. [Basic Science / Preclinical]
Grubb T (2025). [PMID: 41238532](https://pubmed.ncbi.nlm.nih.gov/41238532/). *Nature communications*. [Basic Science / Preclinical]
Gefen AM (2024). [PMID: 38606357](https://pubmed.ncbi.nlm.nih.gov/38606357/). *Frontiers in genetics*. [Review / Meta-Analysis]

Data assembled from 7 of 12 sources · Last updated Sep 19, 2026, 6:55 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:222730

Orphanet

European rare disease database

Orphanet:2195

GARD

Genetic and Rare Diseases Info Center

GARD:1855

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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dicarboxylic aminoaciduria

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

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