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Vitamin B12-responsive methylmalonic acidemia, type cblDv2

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ORPHA:308442

Classification level: Subtype of disorder

Synonym(s):
  • Vitamin B12-responsive methylmalonic aciduria, type cblDv2

Prevalence: -

Inheritance: Autosomal recessive

Age of onset:

ICD-10: E71.1

ICD-11: 5C50.E0

OMIM: 277410

UMLS: C5679970

Summary

This disease is described under Vitamin B12-responsive methylmalonic acidemia

Detailed information

Logo ERN: produced/endorsed by ERN(s) Logo FSMR: produced/endorsed by FSMR(s)

General public
Article for general public
Français (2011.pdf) - EIMD
Polski (2011.pdf) - EIMD
Deutsch (2011.pdf) - EIMD
English (2011.pdf) - EIMD
Español (2011.pdf) - EIMD
Nederlands (2011.pdf) - EIMD
Türkçe (2011.pdf) - EIMD
Svenska (2021) - Socialstyrelsen
Čeština (2011.pdf) - EIMD
Hrvatski (2011.pdf) - EIMD
Italiano (2011.pdf) - EIMD
Português (2011.pdf) - EIMD
Guidelines
Emergency guidelines
English (2012.pdf) - Brit Inher Metab Dis Group
Anesthesia guidelines
English (2017) - Orphananesthesia
Čeština (2017) - Orphananesthesia
Clinical practice guidelines
Français (2020) - PNDS Logo FSMR
English (2024) - Kidney Int Rep
English (2025) - Kidney Int Rep
English (2021) - J Inherit Metab Dis
English (2014) - Orphanet J Rare Dis
Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Newborn screening

The documents contained in this website 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.