Two new severe mutations causing guanidinoacetate methyltransferase deficiency

Carla Carducci, Vincenzo Leuzzi, Claudia Carducci, Sabrina Prudente, Luana Mercuri, Italo Antonozzi

Research output: Contribution to journalArticle


Primary disorders of creatine metabolism have been only recently described. We report new molecular and biochemical findings obtained from a child affected by guanidinoacetate methyltransferase deficiency. This patient presented with neurological regression, epilepsy, and a movement disorder during the first year of life. HPLC analysis showed high concentrations of guanidinoacetic acid in urine, plasma, and CSF. Molecular analyses of cDNA and genomic DNA revealed two novel mutations, a G insertion following nucleotide 491 of the cDNA (c.491insG) in exon 5 and a transversion at nt -3 in intron 5 (IVS5-3C>G). The c.491insG mutation causes a frameshift and a premature stop codon at the end of the exon. The IVS5-3C>G mutation prevents the splicing of the last exon of the gene precluding the complete maturation of the transcript and, most likely, causes rapid degradation of the mRNA.

Original languageEnglish
Pages (from-to)633-638
Number of pages6
JournalMolecular Genetics and Metabolism
Issue number4
Publication statusPublished - 2000


  • Creatine
  • Guanidinoacetate methyltransferase deficiency
  • Guanidinoacetic acid
  • Inborn error of creatine metabolism
  • Mutation

ASJC Scopus subject areas

  • Biochemistry
  • Genetics
  • Endocrinology, Diabetes and Metabolism

Fingerprint Dive into the research topics of 'Two new severe mutations causing guanidinoacetate methyltransferase deficiency'. Together they form a unique fingerprint.

  • Cite this