Severe speech delay as the presenting symptom of guanidinoacetate methyltransferase deficiency

J. Vodopiutz, C. B. Item, M. Häusler, H. Korall, Olaf A. Bodamer

Research output: Contribution to journalArticle

15 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)773-774
Number of pages2
JournalJournal of child neurology
Volume22
Issue number6
DOIs
StatePublished - Jun 1 2007

Keywords

  • Creatine
  • Guanidinoacetate methyltransferase deficiency
  • Seizures
  • Speech delay

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health

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