Traits

Traits linked to MMAA

metabolism of cobalamin associated A

The Human Phenotype Ontology links 30 traits to MMAA, by body system: features seen in people with one of the gene's rare conditions.

Laboratory abnormality

Trait	How often it is seen
Elevated serum anion gap	Always
Elevated urine 2-methylcitric acid level	Always
Elevated urine 3-hydroxypropionic acid level	Always
High blood ammonia levels	Always
Ketonuria	Always
Metabolic acidosis	Always
Methylmalonic aciduria	Always
Decreased circulating adenosylcobalamin concentration	Not recorded
Decreased methylmalonyl-CoA mutase activity	Not recorded
Dehydration	Not recorded
Elevated blood glycine levels	Not recorded
High levels of ketone bodies	Not recorded
Methylmalonic acidemia	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Brisk reflexes	Always
Coma	Not recorded
Epilepsy	Not recorded
Global developmental delay	Not recorded
Lethargy	Not recorded
Tremor	Not recorded

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Low blood cell count	Not recorded
Low blood neutrophil count	Not recorded
Low number of red blood cells or hemoglobin	Not recorded
Low platelet count	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Enlarged liver	Not recorded
Feeding difficulties in infancy	Not recorded
Vomiting	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low muscle tone	Always
Generalized decreased muscle tone	Not recorded

Abnormality of the respiratory system

Trait	How often it is seen
Breathing difficulties	Not recorded

Growth abnormality

Trait	How often it is seen
Faltering weight	Not recorded

How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.

Where this comes from

The Human Phenotype Ontology, release 2026-09-01: the traits linked to MMAA and how often each is seen. Find out more at hpo.jax.org.

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