Search for a rare disease
Other search option(s)
Methylmalonic acidemia with homocystinuria, type cblJ
ORPHA:369955
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: -
Summary
This disease is described under Methylmalonic acidemia with homocystinuria
Detailed information
Article for general public
Professionals
- Anesthesia guidelines
- English (2017, pdf)
- Clinical practice guidelines
- English (2014)
- Français (2020, pdf)
- Clinical genetics review
- English (2018)
Additional information
Further information on this disease
Health care 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.