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

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Anesthesia guidelines
English (2017, pdf)

Clinical practice guidelines
English (2014)

Clinical genetics review
English (2018)

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