methylenetetrahydrofolate reductase deficiency
ORPHA: 395
Overview
medical condition
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 methylenetetrahydrofolate reductase deficiency, sourced from HPO and Orphanet clinical annotations.
Atypical behaviorGait disturbanceMorphological central nervous system abnormalityLower limb spasticityHomocystinuriaHyperhomocystinemiaUpper motor neuron dysfunctionCystathioninemiaLower limb muscle weaknessAbnormal circulating enzyme concentration or activityPsychotic episodesSeizureAtaxiaMental deteriorationSpastic paraparesisAbnormal periventricular white matter morphologyHypomethioninemiaPeripheral neuropathyBrain imaging abnormalityPsychosisIntellectual disabilityLethargyGlobal developmental delayHemiparesisSpecific learning disabilityPsychotic mentationFailure to thriveThromboembolic strokeAbnormal thrombosisBilateral tonic-clonic seizureApneaHeadacheAbnormal cerebral white matter morphologyDeep venous thrombosisAtrophy of the spinal cordFocal-onset seizureFeeding difficulties in infancyGeneralized neonatal hypotoniaBrain atrophyCognitive impairmentHydrocephalusMicrocephalyAbnormality of the eyeNystagmusOptic atrophyStrokeEncephalopathyVentriculomegalyGeneralized non-motor (absence) seizureGeneralized myoclonic seizure
Classification & Codes
Orphanet Code
ORPHA:395methylenetetrahydrofolate reductase deficiency
| Orphanet | ORPHA:395 |
| Treatments | 0 drug(s) |
| Symptoms on record | 50 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO