Primary care
Recommendation 1
Dietary restriction and dietary adherence
3-Hydroxyisobutyric aciduria
Not yet reviewedThis information is AI generated and has not yet been reviewed by a specialist physician. AI can make mistakes.
Disease overview
Rare metabolic condition in which the body is unable to breakdown certain amino acids, caused by changes in the ALDH6A1 gene and inherited in an autosomal recessive manner.
Common symptoms
Developmental delaycharacteristic facial features (Long philtrumMicrotiaTriangular faceMicrognathia) and brain abnormalities (Aplasia/Hypoplasia of the cerebellumAplasia/Hypoplasia of the corpus callosumCerebral calcificationCerebral cortical atrophy)
When to suspect
Recommendation 1
The diagnosis of 3-hydroxyisobutyric aciduria was made by gas chromatography/mass spectrometry analysis
How to test
Recommendation 1
The diagnosis of 3-hydroxyisobutyric aciduria was made by gas chromatography/mass spectrometry analysis
ZebraMD is partnering with Ambry Genetics for clinical-grade whole genome testing for rare diseases. Ambry accepts insurance. If you don’t have a physician to order this test, join our referral list and our team will reach out.
Treatment
Recommendation 1
Limited evidence to support the effectiveness of treatment, but a protein-restricted diet and carnitine supplementation have been tried with varying degrees of success.
Further support
Recommendation 1
No specific physicians specialize in this condition but NORD recommends various rare disease clinics. Referral to Medical Genetics Department, if available. Initial virtual care is also available through organizations like TeleRare Health.
Clinical trials
Clinical Trials
Sources
No data available
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