isovaleric acidemia
MeSH: C538167ORPHA: 33
Overview
organic acidemia disrupting or preventing normal metabolism of the branched-chain amino acid leucine
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 isovaleric acidemia, sourced from HPO and Orphanet clinical annotations.
Global developmental delayMetabolic acidosisIntellectual disabilitySeizureHypotoniaLethargyFailure to thriveHyperammonemiaVomitingKetonuriaLactic acidosisFeeding difficulties in infancyElevated serum anion gap3-hydroxyisovaleric aciduriaElevated circulating isovalerylcarnitine concentrationDelayed speech and language developmentComaMotor delayConfusionDysmetriaTremorAcute pancreatitisWeight lossHypothermiaHypocalcemiaAttention deficit hyperactivity disorderRenal Fanconi syndromeAbnormal globus pallidus morphologyArrhythmia
Classification & Codes
MeSH Code
C538167Orphanet Code
ORPHA:33isovaleric acidemia
| MeSH | C538167 |
| Orphanet | ORPHA:33 |
| Treatments | 0 drug(s) |
| Symptoms on record | 29 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO