Maple syrup urine disease
ORPHA:511DiseaseAutosomal recessiveChildhood, Infancy, Neonatal
Фенотипы (HPO)11
Очень частый (80–99%)9
HP:0000600Abnormality of the pharynx
HP:0001249Intellectual disability
HP:0001250Seizure
HP:0001252Hypotonia
HP:0001263Global developmental delay
HP:0001315Reduced tendon reflexes
HP:0001608Abnormality of the voice
HP:0002093Respiratory insufficiency
HP:0008344Elevated plasma branched chain amino acids
Частый (30–79%)2
HP:0001251Ataxia
HP:0004374Hemiplegia/hemiparesis
Эпидемиология13
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Prevalence at birth | 1-9 / 1 000 000 | 0.67 | Worldwide | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.78 | United States | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.79 | Italy | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 7.3 | Tunisia | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.19 | Japan | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 1.15 | Portugal | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.6 | Australia | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.86 | Taiwan, Province of China | Value and class |
| Point prevalence | 1-9 / 1 000 000 | — | Europe | Class only |
| Prevalence at birth | 1-9 / 100 000 | 4.8 | Israel | Value and class |
| Prevalence at birth | 1-5 / 10 000 | 10.2 | Specific population | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.396 | China | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.34 | Czech Republic | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)