Pyruvate carboxylase deficiency
ORPHA:3008DiseaseAutosomal recessive, Not applicableInfancy, Neonatal
Фенотипы (HPO)70
Очень частый (80–99%)3
HP:0002151Increased circulating lactate concentration
HP:0003128Lactic acidosis
HP:0032653Elevated lactate:pyruvate ratio
Частый (30–79%)26
HP:0001250Seizure
HP:0001508Failure to thrive
HP:0001510Growth delay
HP:0001942Metabolic acidosis
HP:0001987Hyperammonemia
HP:0002161Hyperlysinemia
HP:0002490Increased CSF lactate
HP:0003348Hyperalaninemia
HP:0003542Increased serum pyruvate
HP:0003648Lacticaciduria
HP:0008358Hyperprolinemia
HP:0011966Elevated plasma citrulline
HP:0012644Increased caudate lactate level
HP:0012706Elevated brain choline level by MRS
HP:0012707Elevated brain lactate level by MRS
HP:0012708Reduced brain N-acetyl aspartate level by MRS
HP:0012758Neurodevelopmental delay
HP:0410175Hyperketonemia
HP:0500147Hypoglutaminemia
HP:0500149Hyperglutamatemia
HP:0500181Hypertaurinemia
HP:0500198Decreased CSF glutamine concentration
HP:0500200Increased CSF glutamate concentration
HP:0500231Abnormal CSF pyruvate family amino acid concentration
HP:0500233Increased CSF alanine concentration
HP:0500246Increased CSF citrulline concentration
Периодический (5–29%)39
HP:0007256Abnormal pyramidal sign
HP:0011169Generalized clonic seizure
HP:0012448Delayed myelination
HP:0012469Infantile spasms
HP:0012698Cerebellar gliosis
HP:0012762Cerebral white matter atrophy
HP:0025160Abnormal temper tantrums
HP:0025336Delayed ability to sit
HP:0030051Tip-toe gait
HP:0030890Hyperintensity of cerebral white matter on MRI
HP:0100660Dyskinesia
HP:0000639Nystagmus
HP:0000722Compulsive behaviors
HP:0000741Apathy
HP:0000817Reduced eye contact
HP:0001249Intellectual disability
HP:0001251Ataxia
HP:0001252Hypotonia
HP:0001262Excessive daytime somnolence
HP:0001274Agenesis of corpus callosum
HP:0001290Generalized hypotonia
HP:0001332Dystonia
HP:0001337Tremor
HP:0001943Hypoglycemia
HP:0001944Dehydration
HP:0002013Vomiting
HP:0002039Anorexia
HP:0002119Ventriculomegaly
HP:0002240Hepatomegaly
HP:0002416Subependymal cysts
HP:0002465Poor speech
HP:0002789Tachypnea
HP:0002793Abnormal pattern of respiration
HP:0003074Hyperglycemia
HP:0003228Hypernatremia
HP:0003265Neonatal hyperbilirubinemia
HP:0003429CNS hypomyelination
HP:0006999Basal ganglia gliosis
HP:0007109Periventricular cysts
Очень редкий (1–4%)2
HP:0001259Coma
HP:0100023Recurrent hand flapping
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Prevalence at birth | 1-9 / 1 000 000 | 0.4 | Europe | Value and class |
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)