vitamin B12-unresponsive methylmalonic acidemia type mut0
ORPHA: 289916
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 vitamin B12-unresponsive methylmalonic acidemia type mut0, sourced from HPO and Orphanet clinical annotations.
Renal insufficiencyRenal tubular dysfunctionOptic atrophyIntellectual disabilityLethargyComaGlobal developmental delayHypotoniaChoreoathetosisDystoniaGrowth delayPancreatitisThrombocytopeniaDecreased total neutrophil countAnemiaHyperammonemiaNausea and vomitingChoreaRespiratory distressHepatomegalyHemiplegia/hemiparesisSepsis
Classification & Codes
Orphanet Code
ORPHA:289916vitamin B12-unresponsive methylmalonic acidemia type mut0
| Orphanet | ORPHA:289916 |
| Treatments | 0 drug(s) |
| Symptoms on record | 22 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO