neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency
MeSH: C562803ORPHA: 88639
Overview
gene, encoding 3-hydroxyisobutyryl-CoA hydrolase; the mode of transmission has not yet been established.
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency, sourced from HPO and Orphanet clinical annotations.
HypotoniaMotor delayDystoniaVomitingProgressive neurologic deteriorationEpicanthusStrabismusNystagmusSeizureHyperreflexiaFailure to thriveMetabolic acidosisTruncal ataxiaVentriculomegalyIncreased circulating lactate concentrationSleep disturbanceHypsarrhythmiaAbnormality of mitochondrial metabolismAbnormal vertebral morphologyAplasia/Hypoplasia of the corpus callosumFacial shape deformationFeeding difficultiesInfantile spasmsCryptorchidismIrritabilityEncephalopathyRespiratory insufficiencyLeukoencephalopathySmall basal gangliaTetralogy of FallotHead titubation
Classification & Codes
MeSH Code
C562803Orphanet Code
ORPHA:88639neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency
| MeSH | C562803 |
| Orphanet | ORPHA:88639 |
| Treatments | 0 drug(s) |
| Symptoms on record | 31 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO