methylcobalamin deficiency type cblE
MeSH: C565510ORPHA: 2169
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 methylcobalamin deficiency type cblE, sourced from HPO and Orphanet clinical annotations.
Global developmental delayMegaloblastic bone marrowHyperhomocystinemiaMicrocephalyAbnormality of the eyeIntellectual disabilitySeizureHypotoniaFailure to thriveIntrauterine growth retardationMacrocytic anemiaVomitingAbnormal speech patternDrowsinessAbnormal cerebral white matter morphologyHypomethioninemiaIncreased mean corpuscular volumeLoss of consciousnessPostnatal growth retardationSevere global developmental delayFeeding difficultiesBrain atrophyAbnormality of movementHydrocephalusHearing impairmentVisual impairmentNystagmusAtypical behaviorHypertensionAbnormality of the skeletal systemOsteoporosisSyndactylyLethargyExcessive daytime somnolenceAbnormality of the liverAbnormality of the cardiovascular systemDecreased total neutrophil countPancytopeniaThromboembolismVentriculomegalyHypoplasia of the brainstemDeep venous thrombosisScoliosisHemolytic-uremic syndromeLower limb hypertoniaPeripheral neuropathyDelayed myelinationWidened subarachnoid spaceClinodactylyGlomerulopathy
Classification & Codes
MeSH Code
C565510Orphanet Code
ORPHA:2169methylcobalamin deficiency type cblE
| MeSH | C565510 |
| Orphanet | ORPHA:2169 |
| Treatments | 0 drug(s) |
| Symptoms on record | 50 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO