Pyruvate dehydrogenase E1-alpha deficiency
ORPHA:79243Clinical subtypeX-linked dominantInfancy, Neonatal
Ассоциированные гены2
Фенотипы (HPO)55
Очень частый (80–99%)4
HP:0001518Small for gestational age
HP:0002151Increased circulating lactate concentration
HP:0002490Increased CSF lactate
HP:0500231Abnormal CSF pyruvate family amino acid concentration
Частый (30–79%)19
HP:0000707Abnormality of the nervous system
HP:0001250Seizure
HP:0001511Intrauterine growth retardation
HP:0001999Abnormal facial shape
HP:0002059Cerebral atrophy
HP:0002069Bilateral tonic-clonic seizure
HP:0002119Ventriculomegaly
HP:0002171Gliosis
HP:0002187Intellectual disability, profound
HP:0003128Lactic acidosis
HP:0003542Increased serum pyruvate
HP:0004902Congenital lactic acidosis
HP:0006956Dilation of lateral ventricles
HP:0011193EEG with focal spikes
HP:0011196EEG with focal sharp waves
HP:0011199EEG with generalized sharp slow waves
HP:0012443Abnormality of brain morphology
HP:0025361Abnormality of medullary pyramid morphology
HP:0030917Low APGAR score
Периодический (5–29%)32
HP:0000252Microcephaly
HP:0000618Blindness
HP:0000954Single transverse palmar crease
HP:0001251Ataxia
HP:0001252Hypotonia
HP:0001274Agenesis of corpus callosum
HP:0001332Dystonia
HP:0001338Partial agenesis of the corpus callosum
HP:0001371Flexion contracture
HP:0001629Ventricular septal defect
HP:0001761Pes cavus
HP:0001883Talipes
HP:0002020Gastroesophageal reflux
HP:0002079Hypoplasia of the corpus callosum
HP:0002100Recurrent aspiration pneumonia
HP:0002126Polymicrogyria
HP:0002329Drowsiness
HP:0002350Cerebellar cyst
HP:0002521Hypsarrhythmia
HP:0002540Inability to walk
HP:0002643Neonatal respiratory distress
HP:0002719Recurrent infections
HP:0006799Basal ganglia cysts
HP:0006970Periventricular leukomalacia
HP:0006999Basal ganglia gliosis
HP:0009826Limb undergrowth
HP:0010576Intracranial cystic lesion
HP:0011471Gastrostomy tube feeding in infancy
HP:0011968Feeding difficulties
HP:0012128Basal ganglia necrosis
HP:0012469Infantile spasms
HP:0012698Cerebellar gliosis
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)