Phenotypes associated with the disease hyperammonemia due to N-acetylglutamate synthase deficiency (OMIM:237310):
- Hypertonia (HP:0001276): A condition in which there is increased muscle tone so that arms or legs, for example, are stiff and difficult to move. Evidence: PCS. Frequency: 1/3. (PMID:12594532)
- 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: 3/3. (PMID:12594532)
- Confusion (HP:0001289): Lack of clarity and coherence of thought, perception, understanding, or action. Evidence: IEA. (OMIM:237310)
- Hypothermia (HP:0002045): Reduced body temperature due to failed thermoregulation. Evidence: PCS. Frequency: 1/3. (PMID:12594532)
- Vomiting (HP:0002013): Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions. Evidence: TAS. Frequency: 1/3. (OMIM:237310)
- Low plasma citrulline (HP:0003572): A decreased concentration of citrulline in the blood. Evidence: PCS. Frequency: 2/3. (PMID:12594532)
- 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: 3/3. (PMID:12594532)
- 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: 3/3. (PMID:12594532)
- Cognitive impairment (HP:0100543): Abnormal cognition is characterized by deficits in thinking, reasoning, or remembering. Evidence: TAS. (OMIM:237310)
- Alkalosis (HP:0001948): Depletion of acid or accumulation base in the body fluids. Evidence: PCS. Frequency: 1/3. (PMID:12594532)
- Failure to thrive (HP:0001508): Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm. Evidence: PCS. (PMID:12594532)
- Aggressive behavior (HP:0000718): Behavior or an act aimed at harming a person, animal, or physical property (e.g., acts of physical violence; shouting, swearing, and using harsh language; slashing someone's tires). Evidence: IEA. (OMIM:237310)
- 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: PCS. (PMID:12594532)
- Clonic seizure (HP:0020221): A clonic seizure is a type of motor seizure characterized by sustained rhythmic jerking, that is regularly repetitive. Evidence: PCS. Frequency: 1/3. (PMID:12594532)
- Hyperammonemia (HP:0001987): An increased concentration of ammonia in the blood. Evidence: PCS. Frequency: 3/3. (PMID:12594532)
- Hyperglutamatemia (HP:0500149): Concentration of glutamate in the blood circulation above the upper limit of normal. Evidence: PCS. Frequency: 2/2. (PMID:7623444)
- Hyperglutaminemia (HP:0003217): The concentration of glutamine in the blood circulation is above the upper limit of normal. Evidence: PCS. Frequency: 3/3. (PMID:12594532)
- Reduced hepatic N-acetylglutamate synthase activity (HP:6000161): Concentration or activity of N-acetylglutamate synthase in liver tissue below the lower limit of normal. Evidence: PCS. Frequency: 1/1. (PMID:12594532)
- Tachypnea (HP:0002789): Very rapid breathing. Evidence: PCS. Frequency: 1/3. (PMID:12594532)
- Anorexia (HP:0002039): Lack of desire to eat (loss of appetite). Evidence: PCS. Frequency: 1/3. (PMID:12594532)
- 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: 2/3. (PMID:12594532)
- Hyperalaninemia (HP:0003348): An increased concentration of alanine in the blood. Evidence: PCS. Frequency: 1/3. (PMID:12594532)
- Neonatal onset (HP:0003623): Onset of signs or symptoms of disease within the first 28 days of life. Evidence: PCS. Frequency: 3/3. (PMID:12594532)