Orphanet: Methylmalonic acidemia with homocystinuria, type cblX

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Methylmalonic acidemia with homocystinuria, type cblX

ORPHA:369962

Classification level: Subtype of disorder

Synonym(s):
- Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblX
- Methylmalonic aciduria with homocystinuria, type cblX
Prevalence: <1 / 1 000 000
Inheritance: X-linked recessive
Age of onset: Infancy, Neonatal
ICD-10: E71.1
OMIM: 309541
UMLS: -
MeSH: -
GARD: -
MedDRA: -

Detailed information

General public

Article for general public
Czech (2011, pdf) - EIMD
Deutsch (2011, pdf) - EIMD
English (2011, pdf) - EIMD
Español (2011, pdf) - EIMD
Suomi (2011, pdf) - EIMD
Français (2011, pdf) - EIMD
Hrvatski (2011, pdf) - EIMD
Italiano (2011, pdf) - EIMD
Nederlands (2011, pdf) - EIMD
Polski (2011, pdf) - EIMD
Português (2011, pdf) - EIMD
Türkçe (2011, pdf) - EIMD
Urdu (2011, pdf) - EIMD
Svenska (2021) - Socialstyrelsen

Guidelines

Clinical practice guidelines
English (2014) - Orphanet J Rare Dis
Français (2020) - PNDS

Anesthesia guidelines
Czech (2017) - Orphananesthesia
English (2017) - Orphananesthesia

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Methylmalonic acidemia with homocystinuria, type cblX

ORPHA:369962

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