- Encephalopathy (HP:0001298): Encephalopathy is a term that means brain disease, damage, or malfunction. In general, encephalopathy is manifested by an altered mental state. Evidence: PCS. Frequency: 1/4. (PMID:24530203)
- 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: 3/4. (PMID:24530203)
- Elevated urine acetoacetic acid level (HP:0033407): Elevated amount of acetoacetic acid in the urine. Evidence: PCS. Frequency: 4/4. (PMID:24530203)
- Ketoacidosis (HP:0001993): Acidosis resulting from accumulation of ketone bodies. Evidence: PCS. (PMID:24530203)
- Low plasma citrulline (HP:0003572): A decreased concentration of citrulline in the blood. Evidence: PCS. Frequency: 1/3. (PMID:24530203)
- Ketonuria (HP:0002919): High levels of ketone bodies (acetoacetic acid, beta-hydroxybutyric acid, and acetone) in the urine. Ketone bodies are insignificant in the blood and urine of normal individuals in the postprandial or overnight-fasted state. Evidence: PCS. (PMID:24530203)
- Hypoornithinemia (HP:0500163): An abnormal decrease in ornithine in the blood. Evidence: PCS. Frequency: 1/4. (PMID:24530203)
- Childhood onset (HP:0011463): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. Frequency: 1/4. (PMID:24530203)
- 3-hydroxyisovaleric aciduria (HP:0033111): Concentration of 3-hydroxyisovaleric acid in the urine above the normal range. Evidence: PCS. Frequency: 4/4. (PMID:24530203)
- Elevated urinary 3-hydroxybutyric acid (HP:0040155): An increased amount of 3-hydroxybutyric acid in the urine. Evidence: PCS. Frequency: 4/4. (PMID:24530203)
- Hyperammonemia (HP:0001987): An increased concentration of ammonia in the blood. Evidence: PCS. Frequency: 4/4. (PMID:24530203)
- Hypoglycemia (HP:0001943): A decreased concentration of glucose in the blood. Evidence: PCS. Frequency: 4/4. (PMID:24530203)
- Hyperprolinemia (HP:0008358): The concentration of proline in the blood circulation is above the upper limit of normal. Evidence: PCS. Frequency: 4/4. (PMID:24530203)
- Lacticaciduria (HP:0003648): An increased concentration of lactic acid in the urine. Evidence: PCS. Frequency: 4/4. (PMID:24530203)
- Hypernatremia (HP:0003228): The concentration of sodium in the blood circulation is above the upper limit of normal. Evidence: PCS. Frequency: 1/4. (PMID:24530203)
- Jaundice (HP:0000952): Yellow pigmentation of the skin due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream. Evidence: PCS. Frequency: 1/4. (PMID:24530203)
- Metabolic acidosis (HP:0001942): Metabolic acidosis (MA) is characterized by a fall in blood pH due to a reduction of serum bicarbonate concentration. This can occur as a result of either the accumulation of acids (high anion gap MA) or the loss of bicarbonate from the gastrointestinal tract or the kidney (hyperchloremic MA). By definition, MA is not due to a respirary cause. Evidence: PCS. Frequency: 4/4. (PMID:24530203)
- Hyperalaninemia (HP:0003348): An increased concentration of alanine in the blood. Evidence: PCS. Frequency: 4/4. (PMID:24530203)
- Lactic acidosis (HP:0003128): An abnormal buildup of lactic acid in the body, leading to acidification of the blood and other bodily fluids. Evidence: PCS. (PMID:24530203)
- Neonatal onset (HP:0003623): Onset of signs or symptoms of disease within the first 28 days of life. Evidence: PCS. Frequency: 3/4. (PMID:24530203)
- Hypoargininemia (HP:0005961): The concentration of arginine in the blood circulation is below the lower limit of normal. Evidence: PCS. Frequency: 1/3. (PMID:24530203)
- Episodic vomiting (HP:0002572): Paroxysmal, recurrent episodes of vomiting. Evidence: PCS. Frequency: 1/4. (PMID:24530203)
- 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: TAS. Frequency: Occasional (HP:0040283). (OMIM:615751)
- Increased circulating lactate concentration (HP:0002151): Abnormally increased level of blood lactate (2-hydroxypropanoic acid). Lactate is produced from pyruvate by lactate dehydrogenase during normal metabolism. The terms lactate and lactic acid are often used interchangeably but lactate (the component measured in blood) is strictly a weak base whereas lactic acid is the corresponding acid. Lactic acidosis is often used clinically to describe elevated lactate but should be reserved for cases where there is a corresponding acidosis (pH below 7.35). Evidence: PCS. Frequency: 4/4. (PMID:24530203)
- Elevated urine suberic acid level (HP:0033213): The concentration of suberic acid in the urine, normalized for urine concentration, is above the upper limit of normal. Evidence: PCS. Frequency: 3/4. (PMID:24530203)
- Abnormal urine sebacic acid concentration (HP:0500251): Abnormal concentration of sebacic acid in the urine. Evidence: PCS. Frequency: 1/2. (PMID:24530203)
- 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:24530203)
- Hyperglutaminemia (HP:0003217): The concentration of glutamine in the blood circulation is above the upper limit of normal. Evidence: PCS. Frequency: 3/4. (PMID:24530203)
- Respiratory alkalosis (HP:0001950): Alkalosis due to excess loss of carbon dioxide from the body. Evidence: PCS. Frequency: 2/4. (PMID:24530203)
- Tachypnea (HP:0002789): Very rapid breathing. Evidence: PCS. Frequency: 3/4. (PMID:24530203)
These phenotypes are associated with the disease hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency (OMIM:615751).