Phenotypes associated with the disease Pyridoxamine-5-phosphate deficiency-developmental and epileptic encephalopathy (ORPHA:79096):
- Status epilepticus (HP:0002133): Status epilepticus is a type of prolonged seizure resulting either from the failure of the mechanisms responsible for seizure termination or from the initiation of mechanisms which lead to abnormally prolonged seizures (after time point t1). It is a condition that can have long-term consequences (after time point t2), including neuronal death, neuronal injury, and alteration of neuronal networks, depending on the type and duration of seizures. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:79096)
- Epileptic encephalopathy (HP:0200134): A condition in which epileptiform abnormalities are believed to contribute to the progressive disturbance in cerebral function. Epileptic encephalaopathy is characterized by (1) electrographic EEG paroxysmal activity that is often aggressive, (2) seizures that are usually multiform and intractable, (3) cognitive, behavioral and neurological deficits that may be relentless, and (4) sometimes early death. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:79096)
- Abnormality of eye movement (HP:0000496): An abnormality in voluntary or involuntary eye movements or their control. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79096)
- 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: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79096)
- 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: Frequent (HP:0040282). (ORPHA:79096)
- 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: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79096)
- Myoclonus (HP:0001336): Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79096)
- Failure to thrive (HP:0001508): Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79096)
- Abnormality of the amniotic fluid (HP:0001560): Abnormality of the amniotic fluid, which is the fluid contained in the amniotic sac surrounding the developing fetus. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79096)
- Premature birth (HP:0001622): The birth of a baby of less than 37 weeks of gestational age. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79096)
- 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: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79096)
- Hypoglycemia (HP:0001943): A decreased concentration of glucose in the blood. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79096)
- 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:79096)
- Global brain atrophy (HP:0002283): Unlocalized atrophy of the brain with decreased total brain matter volume and increased ventricular size. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79096)
- Unsteady gait (HP:0002317). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79096)
- Decreased CSF homovanillic acid concentration (HP:0003785): Decreased concentration of homovanillic acid (HVA) in the cerebrospinal fluid. HVA is a metabolite of dopamine. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79096)
- Hypoargininemia (HP:0005961): The concentration of arginine in the blood circulation is below the lower limit of normal. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79096)
- Axial hypotonia (HP:0008936): Muscular hypotonia (abnormally low muscle tone) affecting the musculature of the trunk. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79096)
- EEG with burst suppression (HP:0010851): The burst suppression pattern in electroencephalography refers to a characteristic periodic pattern of low voltage (<10 microvolts) suppressed background and a relatively shorter pattern of higher amplitude slow, sharp, and spiking complexes. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79096)
- Feeding difficulties (HP:0011968): Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79096)
- High-pitched cry (HP:0025430): A type of crying in an abnormally high-pitched voice. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79096)
- Low APGAR score (HP:0030917). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79096)
- Microcephaly (HP:0000252): Head circumference below 2 standard deviations below the mean for age and gender. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79096)
- Pyridoxine-responsive sideroblastic anemia (HP:0005522): A type of sideroblastic anemia that is alleviated by pyridoxine (vitamin B-6) treatment. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79096)
- Abnormal circulating glycine concentration (HP:0010895): Any deviation from the normal concentration of glycine in the blood circulation. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79096)
- Abnormal circulating threonine concentration (HP:0010900): Any deviation from the normal concentration of threonine in the blood circulation. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79096)
- Abnormal circulating histidine concentration (HP:0010904): Any deviation from the normal concentration of histidine in the blood circulation. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79096)
- Abnormal circulating arginine concentration (HP:0010909): Any deviation from the normal concentration of arginine in the blood circulation. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79096)
- Abnormal circulating tyrosine concentration (HP:0010917): Any deviation from the normal concentration of tyrosine in the blood circulation. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79096)