Дефіцит глутарил-КоА-дегідрогенази
ORPHA:25· ICD-10 E72.3· Glutaryl-CoA dehydrogenase deficiency
Визначення(English summary)
Glutaryl-CoA dehydrogenase (GCDH) deficiency (GDD) is an autosomal recessive neurometabolic disorder clinically characterized by encephalopathic crises resulting in striatal injury and a severe dystonic dyskinetic movement disorder.
- Поширеність
- 1-9 / 100 000
- Успадкування
- Autosomal recessive
- Вік початку
- Infancy, Neonatal