Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy
3 hydroxyisobutyric aciduria is characterized by ketoacidotic episodes, cerebral anomalies and facial dysmorphism. It is an organic aciduria that involves valine metabolism. Thirteen cases have been described in the literature so far. Transmission is thought to be autosomal recessive.
Features include: Microcephaly, Episodic ketoacidosis, Ketoacidosis, and Aminoaciduria and 5 more.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Head and neck | 2 | Microcephaly, Abnormal facial shape |
Growth and development |
Biomarker and diagnostic research for 3-hydroxyisobutyric aciduria has been reported in the published literature.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for 3-hydroxyisobutyric aciduria.
108 publications have been identified in PubMed for 3-hydroxyisobutyric aciduria. Research spans Basic Science / Preclinical (39%), Clinical Trial Publication (19%), and Review / Meta-Analysis (18%).
Research Type | Count | % of Total |
|---|---|---|
Laboratory research | 42 | 39% |
Data assembled from 5 of 12 sources · Last updated Oct 3, 2026, 8:11 PM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
1
Failure to thrive |
Pregnancy and birth | 1 | Congenital intracerebral calcification |
21 |
19% |
Research summaries | 19 | 18% |
Disease patterns and progression | 16 | 15% |
Testing and diagnosis research | 8 | 7% |
Patient case studies | 1 | 1% |
New treatment approaches | 1 | 1% |
Zeng K (2026). [PMID: 40935835](https://pubmed.ncbi.nlm.nih.gov/40935835/). *Cell Death Differ*. [Basic Science / Preclinical]
Lopes RD (2026). [PMID: 41335448](https://pubmed.ncbi.nlm.nih.gov/41335448/). *JAMA*. [Clinical Trial Publication]
Böttcher AK (2026). [PMID: 41330459](https://pubmed.ncbi.nlm.nih.gov/41330459/). *Clin Chim Acta*. [Review / Meta-Analysis]
Hassan SA (2026). [PMID: 32491705](https://pubmed.ncbi.nlm.nih.gov/32491705/). *Unknown Journal*. [Epidemiology / Natural History]
Babygirija R (2026). [PMID: 41817439](https://pubmed.ncbi.nlm.nih.gov/41817439/). *Adv Sci (Weinh)*. [Basic Science / Preclinical]
Ge J (2026). [PMID: 41335123](https://pubmed.ncbi.nlm.nih.gov/41335123/). *Diabetes Care*. [Case Report / Case Series]
Vaduganathan M (2026). [PMID: 41052644](https://pubmed.ncbi.nlm.nih.gov/41052644/). *Nat Med*. [Clinical Trial Publication]
Li X (2026). [PMID: 40663140](https://pubmed.ncbi.nlm.nih.gov/40663140/). *Psychopharmacology (Berl)*. [Epidemiology / Natural History]
Li P (2025). [PMID: 40922558](https://pubmed.ncbi.nlm.nih.gov/40922558/). *Ann Med*. [Review / Meta-Analysis]
Jin Z (2025). [PMID: 41017045](https://pubmed.ncbi.nlm.nih.gov/41017045/). *Adv Sci (Weinh)*. [Epidemiology / Natural History]
AI-curated news mentioning 3-hydroxyisobutyric aciduria
Updated Jul 8, 2026
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.