Orphanet: Methylmalonic acidemia with homocystinuria, type cblJ

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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)

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Eurordis directory

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.