3-hydroxyisobutyric aciduria
Findings
No curated finding names 3-hydroxyisobutyric aciduria yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0009371), read 2026-09-29. CC BY 4.0.
Features
15 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Hypogonadotropic hypogonadismHPOHP:0000044
- Very frequent (80% to 99% of cases)
- Lactic acidosisHPOHP:0003128
- Very frequent (80% to 99% of cases)
- Long philtrumHPOHP:0000343
- Frequent (30% to 79% of cases)
- MicrotiaHPOHP:0008551
- Frequent (30% to 79% of cases)
- Triangular faceHPOHP:0000325
- Frequent (30% to 79% of cases)
- Aplasia/Hypoplasia of the cerebellumHPOHP:0007360
- Occasional (5% to 29% of cases)
- Aplasia/Hypoplasia of the corpus callosumHPOHP:0007370
- Occasional (5% to 29% of cases)
- Cerebral calcificationHPOHP:0002514
- Occasional (5% to 29% of cases)
- Cerebral cortical atrophyHPOHP:0002120
- Occasional (5% to 29% of cases)
- Intrauterine growth retardationHPOHP:0001511
- Occasional (5% to 29% of cases)
- MicrocephalyHPOHP:0000252
- Occasional (5% to 29% of cases)
- MicrognathiaHPOHP:0000347
- Occasional (5% to 29% of cases)
Show the remaining 3
- SeizureHPOHP:0001250
- Occasional (5% to 29% of cases)
- Sloping foreheadHPOHP:0000340
- Occasional (5% to 29% of cases)
- VentriculomegalyHPOHP:0002119
- Occasional (5% to 29% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- HIBADHHGNC:4907
- Limited · ClinGen · Autosomal recessive · 2023
- Limited · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of