Orphanet: Methylmalonic acidemia with homocystinuria, type cblJ

Search for a rare disease

* (*) mandatory field

Other search option(s)

Suggest an update

(*) Required fields.


Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed.

Captcha image

Methylmalonic acidemia with homocystinuria, type cblJ


Classification level: Subtype of disorder
  • Synonym(s):
    • CblJ defects
    • Cobalamin J defect
    • Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblJ
    • Methylmalonic aciduria with homocystinuria, type cblJ
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: E71.1
  • OMIM: 614857
  • UMLS: -
  • MeSH: -
  • GARD: 12621
  • MedDRA: -
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.