Intermediate maple syrup urine disease
ORPHA:268162Clinical subtypeAutosomal recessiveInfancy, Neonatal
Ассоциированные гены4
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| BCKDHA | branched chain keto acid dehydrogenase E1 subunit alpha | Disease-causing germline mutation(s) in | gene with protein product | 608348 |
| BCKDHB | branched chain keto acid dehydrogenase E1 subunit beta | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 248611 |
| DBT | dihydrolipoamide branched chain transacylase E2 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 248610 |
| PPM1K | protein phosphatase, Mg2+/Mn2+ dependent 1K | Disease-causing germline mutation(s) in | gene with protein product | 611065 |
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Prevalence at birth | Unknown | — | Worldwide | Class only |
| Point prevalence | 1-9 / 1 000 000 | — | Europe | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)