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Combined malonic and methylmalonic acidemia

Disease definition

Combined malonic and methylmalonic acidemia is a rare inborn error of metabolism characterized by elevation of malonic acid (MA) and methylmalonic acid (MMA) in body fluids, with higher levels of MMA than MA. CMAMMA presents in childhood with metabolic acidosis, developmental delay, dystonia and failure to thrive or in adulthood with seizures, memory loss and cognitive decline.

ORPHA:289504

Classification level: Disorder
  • Synonym(s):
    • CMAMMA
    • Combined malonic and methylmalonic aciduria
  • Prevalence: Unknown
  • Inheritance: Autosomal dominant or Autosomal recessive 
  • Age of onset: All ages
  • ICD-10: E71.1
  • OMIM: 614265
  • UMLS: C3280314
  • MeSH: -
  • GARD: 10818
  • MedDRA: -

  A summary on this disease is available in Français (2015) Deutsch (2017) Español (2017) Italiano (2017) Nederlands (2017)

Detailed information

General public

ERN : produced/endorsed by ERN(s)
FSMR : produced/endorsed by FSMR(s)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.