fumarase deficiency
MeSH: C538191ORPHA: 24
Overview
rare disease
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 fumarase deficiency, sourced from HPO and Orphanet clinical annotations.
Decreased fumarate hydratase activityHypertelorismSeizureHypotoniaLethargyGlobal developmental delayEncephalopathyFailure to thrive in infancyPolyhydramniosPremature birthFrontal bossingCerebral atrophyVentriculomegalyDepressed nasal bridgeFeeding difficulties in infancyMicrocephalyAnteverted naresOptic atrophyReduced eye contactComaAbnormal corpus callosum morphologyDystoniaIntrauterine growth retardationOligohydramniosDecreased total neutrophil countPolycythemiaVomitingHepatomegalyPoor head controlAbnormal cerebral white matter morphologyHypsarrhythmiaCleft ala nasiCerebral hypomyelinationTented upper lip vermilionIncreased urine alpha-ketoglutarate concentrationDelayed myelinationInfantile spasmsBilateral polymicrogyriaElevated urine fumaric acid levelCerebral visual impairmentMetabolic acidosisHypoglycemiaHyperammonemiaLactic acidosis
Classification & Codes
MeSH Code
C538191Orphanet Code
ORPHA:24fumarase deficiency
| MeSH | C538191 |
| Orphanet | ORPHA:24 |
| Treatments | 0 drug(s) |
| Symptoms on record | 44 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO