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Start free with EleplanVitamin B12-unresponsive methylmalonic acidemia type mut-
ORPHA:79312Clinical subtype
Also called Partial deficiency of methylmalonyl-CoA mutase · Vitamin B12-unresponsive methylmalonic aciduria type mut-
What it is
Vitamin B12-unresponsive methylmalonic acidemia type mut- 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.
Key facts
- Age of onset
- Infancy, Neonatal
- Inheritance
- Autosomal recessive
- Classified as
- Clinical subtype
Signs and symptoms
Very common80–99%
7Common30–79%
9Sometimes5–29%
13- Abdominal pain
- Abnormality of movement
- Anemia
- Cardiomyopathy
- Choreoathetosis
- Decreased total neutrophil count
- Hepatomegaly
- Optic atrophy
and 5 more in this range
These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
Gene
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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