Phenotypes associated with the disease methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency (OMIM:251000):
- Lethargy (HP:0001254): A state of fatigue, either physical or mental slowness and sluggishness, with difficulties in initiating or performing simple tasks. Distinguished from apathy which implies indifference and a lack of desire or interest in the task. A person with lethargy may have the desire, but not the energy to engage in personal or socially relevant tasks. Evidence: PCS. Frequency: 76/266. (PMID:34668645)
- Stage 5 chronic kidney disease (HP:0003774): A degree of kidney failure severe enough to require dialysis or kidney transplantation for survival characterized by a severe reduction in glomerular filtration rate (less than 15 ml/min/1.73 m2) and other manifestations including increased serum creatinine. Evidence: IEA. (OMIM:251000)
- Delayed CNS myelination (HP:0002188): Delayed myelination in the central nervous system. Evidence: IEA. (OMIM:251000)
- Tubulointerstitial nephritis (HP:0001970): A form of inflammation of the kidney affecting the interstitium of the kidneys surrounding the tubules. Evidence: IEA. (OMIM:251000)
- Seizure (HP:0001250): A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain. Evidence: PCS. Frequency: 58/266. (PMID:34668645)
- Abnormal vitamin B12 concentration (HP:0004341): The concentration of vitamin B12 (or one of its metabolites) in the blood circulation is outside the limits of normal. Evidence: PCS. Frequency: 0/1. (PMID:34668645)
- Hypotonia (HP:0001252): Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist. Evidence: PCS. Frequency: 1/10. (PMID:7681251)
- Hepatomegaly (HP:0002240): Abnormally increased size of the liver. Evidence: IEA. (OMIM:251000)
- Infantile onset (HP:0003593): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: PCS. Frequency: 3/10. (PMID:7681251)
- Failure to thrive (HP:0001508): Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm. Evidence: IEA. (OMIM:251000)
- Childhood onset (HP:0011463): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. Frequency: 2/10. (PMID:7681251)
- Dehydration (HP:0001944). Evidence: IEA. (OMIM:251000)
- Hyperammonemia (HP:0001987): An increased concentration of ammonia in the blood. Evidence: PCS. Frequency: 1/1. (PMID:1977311)
- Hypoglycemia (HP:0001943): A decreased concentration of glucose in the blood. Evidence: PCS. Frequency: 1/1. (PMID:1977311)
- Methylmalonic acidemia (HP:0002912): The concentration of methylmalonic acid in the blood circulation is above the upper limit of normal. Evidence: PCS. Frequency: 1/1. (PMID:1977311)
- Muscle weakness (HP:0001324): Reduced strength of muscles. Evidence: PCS. Frequency: 63/266. (PMID:34668645)
- Episodic metabolic acidosis (HP:0004911): Repeated transient episodes of metabolic acidosis, that is, of the buildup of acid or depletion of base due to accumulation of metabolic acids. Evidence: PCS. Frequency: 1/1. (PMID:1977311)
- Neonatal onset (HP:0003623): Onset of signs or symptoms of disease within the first 28 days of life. Evidence: PCS. Frequency: 6/11. (PMID:7681251;PMID:1977311)
- Diarrhea (HP:0002014): Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day. Evidence: PCS. Frequency: 47/266. (PMID:34668645)
- Abnormal globus pallidus morphology (HP:0002453): An abnormality of the globus pallidus. Evidence: IEA. (OMIM:251000)
- Decreased total leukocyte count (HP:0001882): An abnormal decreased number of leukocytes in the blood. Evidence: IEA. (OMIM:251000)
- Vomiting (HP:0002013): Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions. Evidence: PCS. Frequency: 81/266. (PMID:34668645)
- Respiratory distress (HP:0002098): Respiratory distress is objectively observable as the physical or emotional consequences from the experience of dyspnea. The physical presentation of respiratory distress is generally referred to as labored breathing, while the sensation of respiratory distress is called shortness of breath or dyspnea. Evidence: PCS. Frequency: 1/1. (PMID:1977311)
- Feeding difficulties (HP:0011968): Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it. Evidence: PCS. Frequency: 124/266. (PMID:34668645)
- Hyperglycinemia (HP:0002154): An elevated concentration of glycine in the blood. Evidence: IEA. (OMIM:251000)
- Global developmental delay (HP:0001263): A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age. Evidence: PCS. (PMID:7681251)
- Cerebellar hemorrhage (HP:0011695): Hemorrhage into the parenchyma of the cerebellum. Evidence: TAS. Frequency: Occasional (HP:0040283). (OMIM:251000)
- Methylmalonic aciduria (HP:0012120): Increased concentration of methylmalonic acid in the urine. Evidence: PCS. Frequency: 267/267. (PMID:34668645;PMID:1977311)
- Autosomal recessive inheritance (HP:0000007): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: IEA. (OMIM:251000)
- Cardiomyopathy (HP:0001638): A myocardial disorder in which the heart muscle is structurally and functionally abnormal, in the absence of coronary artery disease, hypertension, valvular disease and congenital heart disease sufficient to cause the observed myocardial abnormality. Evidence: IEA. (OMIM:251000)
- Metabolic ketoacidosis (HP:0005979): A metabolic acidosis due to accumulation of ketone bodies generally observed in the setting of poor nutritional intake. Evidence: PCS. Frequency: 8/10. (PMID:7681251)
- Thrombocytopenia (HP:0001873): A reduction in the number of circulating thrombocytes. Evidence: PCS. Frequency: 1/1. (PMID:1977311)
- Pancreatitis (HP:0001733): The presence of inflammation in the pancreas. Evidence: IEA. (OMIM:251000)
- Coma (HP:0001259): The complete absence of wakefulness and consciousness, which is evident through a lack of response to any form of external stimuli. Evidence: PCS. Frequency: 56/266. (PMID:34668645)
- Decreased total neutrophil count (HP:0001875): Abnormal decrease of absolute number of neutrophils in the blood, per microlitre, compared to a reference range for a given sex and age-group. Evidence: PCS. Frequency: 1/1. (PMID:1977311)