- Decreased activity of the pyruvate dehydrogenase complex (HP:0002928). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:79246)
- Neonatal hypotonia (HP:0001319): Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79246)
- 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: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79246)
- Lactic acidosis (HP:0003128): An abnormal buildup of lactic acid in the body, leading to acidification of the blood and other bodily fluids. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79246)
- Hyperalaninemia (HP:0003348): An increased concentration of alanine in the blood. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79246)
- Lacticaciduria (HP:0003648): An increased concentration of lactic acid in the urine. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79246)
- Hyperprolinemia (HP:0008358): The concentration of proline in the blood circulation is above the upper limit of normal. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79246)
- Axial hypotonia (HP:0008936): Muscular hypotonia (abnormally low muscle tone) affecting the musculature of the trunk. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79246)
- Mild global developmental delay (HP:0011342): A mild delay in the achievement of motor or mental milestones in the domains of development of a child. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79246)
- Focal hyperintensity of cerebral white matter on MRI (HP:0040328): An abnormal area of increased brightness (hyperintensity) that is limited to one particular area. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79246)
- Brain imaging abnormality (HP:0410263): An anomaly of metabolism or structure of the brain identified by imaging. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79246)
These phenotypes are associated with the disease Pyruvate dehydrogenase phosphatase deficiency (ORPHA:79246).