title: Severe speech delay as the presenting symptom of guanidinoacetate methyltransferase deficiency.
abstract: Guanidinoacetate methyltransferase deficiency typically presents with muscular hypotonia, global developmental delay, extrapyramidal signs, and seizures during infancy and childhood. The authors report a 5-year-old child with guanidinoacetate methyltransferase deficiency who presented with severe speech delay, emphasizing the importance of an early screening for disorders of creatine synthesis and transport in every infant or child with isolated speech delay of unknown cause.
authors.affiliation: Division of Biochemical and Paediatric Genetics, Department of General Paediatrics, University Children's Hospital Vienna, Austria.
authors.forename: J
authors.initials: J
authors.lastname: Vodopiutz
authors.forename: C B
authors.initials: CB
authors.lastname: Item
authors.forename: M
authors.initials: M
authors.lastname: Häusler
authors.forename: H
authors.initials: H
authors.lastname: Korall
authors.forename: O A
authors.initials: OA
authors.lastname: Bodamer
mesh_terms: D000592:Amino Acid Metabolism, Inborn Errors / Q000150:complications*; D002675:Child, Preschool; D050937:Guanidinoacetate N-Methyltransferase / Q000172:deficiency*; D006801:Humans; D007805:Language Development Disorders / Q000209:etiology*; D008297:Male
chemical_list: D050937:Guanidinoacetate N-Methyltransferase