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Vitamin B12-unresponsive methylmalonic acidemia type mut0

Disease definition

Vitamin B12-unresponsive methylmalonic acidemia type mut0 is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12.

ORPHA:289916

Classification level: Subtype of disorder
  • Synonym(s):
    • Complete deficiency of methylmalonyl-CoA mutase
    • Vitamin B12-unresponsive methylmalonic aciduria type mut0
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: E71.1
  • ICD-11: 5C50.E0
  • OMIM: 251000
  • UMLS: C0342718
  • MeSH: -
  • GARD: -
  • MedDRA: -

Summary

Epidemiology

Prevalence of this disorder is not known.

Clinical description

The disease typically presents very early in life (<1 to 4 weeks), although rare later onset cases have been observed, with features including lethargy, failure to thrive, recurrent vomiting, dehydration, respiratory distress, muscle hypotonia, developmental delay, intellectual deficit, hepatomegaly and coma. Patients may show signs of anemia. They may also have potentially life-threatening ketoacidosis and/or hyperammonemia, renal and neurological complications, metabolic stroke and cardiomyopathy.

Etiology

The disease is caused by complete deficiency in the activity of the mitochondrial enzyme methylmalonyl-CoA mutase which is a result of mutations in the MUT gene (6p21).

Genetic counseling

It is transmitted as an autosomal recessive trait.

Expert reviewer(s):  Dr David ROSENBLATT - Dr David WATKINS - Last update: February 2012

  A summary on this disease is available in Deutsch (2012) Español (2012) Français (2012) Italiano (2012) Nederlands (2012) Polski (2012, pdf)

Detailed information

General public

Guidelines

Disease review articles

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

Additional information

Further information on this disease

Patient-centred 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.