ORPHA:28
Vitamin B12-responsive methylmalonic acidemia
Also called Adenosylcobalamin deficiency, Vitamin B12-responsive methylmalonic aciduria
- Body system
- Inborn errors of metabolism
- Inheritance pattern
- Autosomal recessive
- Typical age of onset
- Childhood
- Estimated prevalence
- Unknown (Worldwide)
- Rarity class
- Unknown
ORPHA:28 is classified under "Inborn errors of metabolism" in the Orphanet nomenclature.
Common signs
- Lethargy
- Coma
- Failure to thrive
- Dehydration
- Nausea and vomiting
- Respiratory insufficiency