Rare diseases · Sign or symptom
Methylmalonic acidemia
HP:0002912
What it means
The concentration of methylmalonic acid in the blood circulation is above the upper limit of normal.
Methylmalonic aciduria is a genetically heterogeneous disorder of methylmalonate and cobalamin (cbl; vitamin B12) metabolism.
Rare diseases that can present with this4
Very common80–99%
2The range is how often this sign appears among people diagnosed with each disease — it is not a probability of having any of them. Many of these signs also occur in common, non-rare conditions, and Orphanet separately records 1 disease where this sign is specifically absent. A sign on this page is a conversation to have with a clinician, not a conclusion.
Part of the broader category
Also called: Elevated circulating methylmalonic acid concentration · Elevated methylmalonic acid concentration · Elevated methylmalonic acid level · Elevated methylmalonic acid level in blood · Increased methylmalonic acid concentration · Increased methylmalonic acid level · Increased methylmalonic acid level in blood
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Start free with EleplanThis page uses the Human Phenotype Ontology (2026-06-23) — Human Phenotype Ontology Consortium, hpo.jax.org. Disease associations from Orphanet (INSERM), CC BY 4.0. Content is educational and is not medical advice.