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Also known as:AMOXADKetoadipicaciduriaalpha-aminoadipic aciduria
Overview
GeneticsAutosomal recessive · DHTKD1 (chr 10)
ResearchLimited published research (2 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: Mild global developmental delay, Global developmental delay, 2-hydroxyadipic aciduria, and Alpha-aminoadipic aciduria; and common findings: Microcephaly, Delayed speech and language development, Low muscle tone (hypotonia), and Attention deficit hyperactivity disorder.
Organ System
Phenotype Count
Example Features
Brain and nerves
3
Delayed speech and language development, Mild global developmental delay, Global developmental delay
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.
DHTKD1 encodes dehydrogenase E1 and transketolase domain containing 1 (919 aa). 2-oxoadipate dehydrogenase (E1a) component of the 2-oxoadipate dehydrogenase complex (OADHC). Highest expression in Liver (51.2 TPM) and Cells EBV-transformed lymphocytes (43.7 TPM).
2-aminoadipic 2-oxoadipic aciduria is caused by mutations in the DHTKD1 gene on chromosome 10.
DHTKD1 is classified as a druggable target (Enzyme category) with score 0.0.
Diagnosis
Genetic testing for DHTKD1 is available. Testing is considered confirmatory for diagnosis.
Biomarker and diagnostic research for 2-aminoadipic 2-oxoadipic aciduria has been reported in the published literature.
Prognosis
Phenotype severity distribution: 4 always present features, 4 common features.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
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 2-aminoadipic 2-oxoadipic aciduria.
2 publications have been identified in PubMed for 2-aminoadipic 2-oxoadipic aciduria. Research spans Diagnostic / Biomarker (50%) and Review / Meta-Analysis (50%).
Recent Publications
Kim JW (2025). [PMID: 39563200](https://pubmed.ncbi.nlm.nih.gov/39563200/). *Cancer research and treatment*. [Diagnostic / Biomarker]
Shi W (2025). [PMID: 40432896](https://pubmed.ncbi.nlm.nih.gov/40432896/). *Frontiers in pharmacology*. [Review / Meta-Analysis]
Data assembled from 7 of 12 sources · Last updated Sep 19, 2026, 1:53 PM UTC
Diseases are connected by shared genes, phenotypes, therapeutic targets, and MONDO disease hierarchy. The Rare badge reflects Kisho's rarity classification — scored from authoritative sources including OMIM, Orphanet, orphan drug designations, clinical trial activity, and published prevalence data.
A new treatment for children aged 2 or older with sickle cell disease has been approved by the U.S. Food & Drug Administration. In a press release on Wednesday, the FDA announced it had approved Casgevy, the first gene therapy for children with sickle cell disease. (NewsNation) — A new treatment for children aged 2 or older with sickle cell disease has been approved by the Food & Drug Administration (FDA). In a Wednesday news release, the FDA announced it had approved Casgevy, the first gene therapy for children with the disease. “Casgevy is a gene therapy consisting of the patient’s own (autologous) hematopoietic (blood) stem cells, administered as a one-time single dose for intravenous infusion,” the release noted. “Pediatric patients as young as 2 years of age can now access a critical additional treatment option to treat these debilitating, life-threatening diseases,” Karim Mikhail, the acting director of the Center for Biologics Evaluation and Research, wrote. “These disorders carry a heavy burden for children and their families, affecting growth, development, and long-term health in profound ways,” Megha Kaushal, acting deputy director of the Office of Therapeutic Products in CBER, said in the release.
