Pyruvate dehydrogenase E2 deficiency
ORPHA:79244Clinical subtypeAutosomal recessiveChildhood
Ассоциированные гены1
Фенотипы (HPO)32
Очень частый (80–99%)4
HP:0001288Gait disturbance
HP:0012379Abnormal enzyme/coenzyme activity
HP:0100503Low levels of vitamin B1
HP:0500231Abnormal CSF pyruvate family amino acid concentration
Частый (30–79%)21
HP:0000496Abnormality of eye movement
HP:0000546Retinal degeneration
HP:0000707Abnormality of the nervous system
HP:0000708Atypical behavior
HP:0001260Dysarthria
HP:0001263Global developmental delay
HP:0001276Hypertonia
HP:0001288Gait disturbance
HP:0002136Broad-based gait
HP:0002180Neurodegeneration
HP:0002268Paroxysmal dystonia
HP:0002395Lower limb hyperreflexia
HP:0002454Eye of the tiger anomaly of globus pallidus
HP:0003487Babinski sign
HP:0005656Positional foot deformity
HP:0010864Intellectual disability, severe
HP:0025331Upgaze palsy
HP:0025335Delayed ability to stand
HP:0031139Frog-leg posture
HP:0031936Delayed ability to walk
HP:0031960Arm dystonia
Периодический (5–29%)7
HP:0000252Microcephaly
HP:0000486Strabismus
HP:0000726Dementia
HP:0000739Anxiety
HP:0004302Functional motor deficit
HP:0007994Peripheral visual field loss
HP:0011098Speech apraxia
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)