methylmalonic aciduria and homocystinuria type cblF
MeSH: C564747ORPHA: 79284
Overview
methylmalonic acidemia that is characterized by the accumulation of cobalamin in lysosomes which is then unable to synthesize the cofactors adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl)
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 cblF, sourced from HPO and Orphanet clinical annotations.
Megaloblastic anemiaHyperhomocystinemiaDecreased circulating adenosylcobalamin concentrationDecreased circulating methylcobalamin concentrationMethylmalonic aciduriaElevated circulating palmitoleylcarnitine concentrationDecreased circulating vitamin B12 concentrationIntellectual disabilitySeizureHypotoniaLethargyFailure to thriveGrowth delayIntrauterine growth retardationAbnormal heart morphologyAbnormal facial shapeRecurrent infectionsFeeding difficultiesNeurodevelopmental delayUnilateral renal agenesisCleft palateGlossitisSkin rashDecreased total neutrophil countReduced number of intrahepatic bile ductsStomatitisIntraventricular hemorrhage
Classification & Codes
MeSH Code
C564747Orphanet Code
ORPHA:79284methylmalonic aciduria and homocystinuria type cblF
| MeSH | C564747 |
| Orphanet | ORPHA:79284 |
| Treatments | 0 drug(s) |
| Symptoms on record | 27 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO