methylmalonic aciduria and homocystinuria type cblC
ORPHA: 79282
Overview
Human 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 methylmalonic aciduria and homocystinuria type cblC, sourced from HPO and Orphanet clinical annotations.
Intellectual disabilityMegaloblastic anemiaHyperhomocystinemiaMethylmalonic acidemiaMethylmalonic aciduriaElevated circulating palmitoleylcarnitine concentrationGlossitisMicrocephalyVisual impairmentRetinal degenerationPigmentary retinopathyNystagmusOptic atrophyMacular pseudocolobomaFailure to thriveGrowth delayThrombocytopeniaAbnormal macular pigmentationStomatitisFeeding difficultiesGlomerulopathyRenal insufficiencyAbnormality of the nervous systemAtypical behaviorPersonality changesJaundiceSeizureAtaxiaHypotoniaLethargyMental deteriorationEncephalopathyIntrauterine growth retardationAbnormal heart morphologyDilated cardiomyopathyHydrops fetalisDecreased total neutrophil countThromboembolismHypoglycemiaDehydrationHyperammonemiaHypothermiaCerebral atrophyPulmonary arterial hypertensionRespiratory distressAbnormal speech patternLeukoencephalopathyMemory impairmentDeep venous thrombosisKetonuriaHypomethioninemiaAtrophy of the spinal cordPoor fine motor coordinationAuditory hallucinationPeripheral demyelinationInfantile spasmsNeurodevelopmental delayPeriventricular white matter hyperintensitiesImpaired executive functioningSubdural hemorrhageHydrocephalusLong faceSmooth philtrumHigh foreheadLow-set earsPsychosisDementiaStrokeMetabolic acidosisAbnormal facial shapePulmonary embolismDevelopmental regressionHemolytic-uremic syndromeSevere demyelination of the white matterAbnormal brain morphologyDelirium
Classification & Codes
Orphanet Code
ORPHA:79282methylmalonic aciduria and homocystinuria type cblC
| Orphanet | ORPHA:79282 |
| Treatments | 0 drug(s) |
| Symptoms on record | 76 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO