Glycine encephalopathy
ORPHA:407DiseaseAutosomal recessiveInfancy, Neonatal
Фенотипы (HPO)13
Очень частый (80–99%)8
HP:0001250Seizure
HP:0001252Hypotonia
HP:0002079Hypoplasia of the corpus callosum
HP:0002154Hyperglycinemia
HP:0002353EEG abnormality
HP:0010851EEG with burst suppression
HP:0012705Abnormal metabolic brain imaging by MRS
HP:0100247Recurrent singultus
Частый (30–79%)5
HP:0001254Lethargy
HP:0002033Poor suck
HP:0002123Generalized myoclonic seizure
HP:0005957Breathing dysregulation
HP:0005972Respiratory acidosis
Эпидемиология8
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | 0.17 | Europe | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 1.8 | Finland | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 1.59 | Canada | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 1 | Saudi Arabia | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 2 | Portugal | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.13 | Portugal | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 3.8 | Israel | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 8 | Specific population | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)