Traits

Traits linked to MMUT

methylmalonyl-CoA mutase

The Human Phenotype Ontology links 49 traits to MMUT, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the nervous system

Trait	How often it is seen
Coma	Very often (80–99%)
Lethargy	Very often (80–99%)
Difficulty articulating speech	Often (30–79%)
Dystonia	Often (30–79%)
Global developmental delay	Often (30–79%)
Intellectual disability	Often (30–79%)
Abnormality of movement	Sometimes (5–29%)
Chorea	Sometimes (5–29%)
Choreoathetosis	Sometimes (5–29%)
Epilepsy	Sometimes (5–29%)
Paralysis or weakness of one side of body	Sometimes (5–29%)
Abnormal globus pallidus morphology	Not recorded
Delayed CNS myelination	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Anorexia	Very often (80–99%)
Nausea and vomiting	Very often (80–99%)
Enlarged liver	Often (30–79%)
Feeding difficulties	Often (30–79%)
Vomiting	Often (30–79%)
Abdominal pain	Sometimes (5–29%)
Diarrhea	Sometimes (5–29%)
Pancreatic inflammation	Sometimes (5–29%)

Laboratory abnormality

Trait	How often it is seen
Episodic metabolic acidosis	Always
High blood ammonia levels	Always
Low blood sugar	Always
Methylmalonic acidemia	Always
Methylmalonic aciduria	Always
Dehydration	Very often (80–99%)
Metabolic ketoacidosis	Very often (80–99%)
Elevated blood glycine levels	Not recorded

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Low blood neutrophil count	Always
Low platelet count	Always
Cerebellar hemorrhage	Sometimes (5–29%)
Low number of red blood cells or hemoglobin	Sometimes (5–29%)
Decreased blood leukocyte number	Not recorded

Abnormality of the genitourinary system

Trait	How often it is seen
Abnormal function of filtrating structures in kidney	Sometimes (5–29%)
Renal failure	Sometimes (5–29%)
Stage 5 chronic kidney disease	Not recorded
Tubulointerstitial nephritis	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
Increased spleen size	Often (30–79%)
Disease of the heart muscle	Sometimes (5–29%)
Stroke	Sometimes (5–29%)

Abnormality of the immune system

Trait	How often it is seen
Decreased immune function	Often (30–79%)
Infection in blood stream	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low muscle tone	Often (30–79%)
Muscle weakness	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Faltering weight	Very often (80–99%)
Growth delay	Very often (80–99%)

Abnormality of the eye

Trait	How often it is seen
Optic atrophy	Sometimes (5–29%)

Abnormality of the respiratory system

Trait	How often it is seen
Breathing difficulties	Always

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 MMUT and how often each is seen. Find out more at hpo.jax.org.

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