Guanidinoacetate methyltransferase deficiency

Disease Export to PDF
Name:
Guanidinoacetate methyltransferase deficiency
Description:
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.
ORPHAcode:
382
Synonyms:
GAMT deficiency
XREF(s):
Analyte(s):
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14