Novel guanidinoacetate methyltransferase (GAMT) mutation associated with cerebral creatine deficiency syndrome in a Syrian child: a case report.

ABSTRACT: Guanidinoacetate methyltransferase (GAMT) deficiency, also known as cerebral creatine deficiency syndrome type 2 (CCDS2), is an uncommon disease caused by an innate genetic defect in the metabolic pathway of creatine inherited in an autosomal recessive manner. It is a rare cause of neurological regression and epilepsy. In this report, we present the first GAMT deficiency case in Syria related to a novel variant.

Case presentation

A 2.5-year-old boy presented to the paediatric neurology clinic with evidence of neurodevelopmental delays and intellectual disabilities. Recurrent eye blinking, generalized non-motor (absence) seizures, hyperactivity, and poor eye contact were revealed in the neurological examination. Some athetoid and dystonic movements were noticed. His electroencephalog

SUBMITTER: Alhomsi D 

PROVIDER: S-EPMC10205335 | biostudies-literature | 2023 May

REPOSITORIES: biostudies-literature