Дефіцит гуанідиноацетатметилтрансферази
ORPHA:382· ICD-10 E72.8· Guanidinoacetate methyltransferase deficiency
Визначення(English summary)
Guanidinoacetate methyltransferase (GAMT) deficiency is a creatine deficiency syndrome characterized by global developmental delay/intellectual disability (DD/ID), prominent speech delay, autistic/hyperactive behavioral disorders, seizures, and various types of pyramidal and/or extra-pyramidal manifestations.
- Поширеність
- <1 / 1 000 000
- Успадкування
- Autosomal recessive
- Вік початку
- Childhood, Infancy