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Arginine:Glycine Amidinotransferase Deficiency: The Third Inborn Error of Creatine Metabolism in Humans

Item, Chike Bellarmine, Stöckler-Ipsiroglu, Sylvia, Stromberger, Carmen, Mühl, Adolf, Alessandrì, Maria Grazia, Bianchi, Maria Cristina, Tosetti, Michela, Fornai, Francesco, Cioni, Giovanni·2001·The American Journal of Human Genetics
DOI 10.1086/323765
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Abstract

Arginine:glycine amidinotransferase (AGAT) catalyzes the first step of creatine synthesis, resulting in the formation of guanidinoacetate, which is a substrate for creatine formation. In two female siblings with mental retardation who had brain creatine deficiency that was reversible by means of oral creatine supplementation and had low urinary guanidinoacetate concentrations, AGAT deficiency was identified as a new genetic defect in creatine metabolism. A homozygous G-A transition at nucleotide position 9297, converting a tryptophan codon (TGG) to a stop codon (TAG) at residue 149 (T149X), resulted in undetectable cDNA, as investigated by reverse-transcription PCR, as well as in undetectable AGAT activity, as investigated radiochemically in cultivated skin fibroblasts and in virus-transformed lymphoblasts of the patients. The parents were heterozygous for the mutant allele, with intermediate residual AGAT activities. Recognition and treatment with oral creatine supplements may prevent neurological sequelae in affected patients.

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  • Rare GATM mutations cause creatine deficiencies in brain, leading to cognitive impairment.

    “Although the associated GWAS study implicates this gene in chronic kidney disease, rare GATM mutations have been shown to cause creatine deficiencies in brain, leading to cognitive impairment (Item et al., 2001).”

    From Transcriptome-wide Discovery of microRNA Binding Sites in Human Brain (2014) · cites this paper as Item et al., 2001

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Research works printed but not linked: 26

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Metadata

Authors
Item, C. B., Stöckler-Ipsiroglu, S., Stromberger, C., Mühl, A., Alessandrì, M. G., Bianchi, M. C., Tosetti, M., Fornai, F., & Cioni, G.
Venue
The American Journal of Human Genetics
Publisher
Elsevier BV
Published
2001-11
Volume
69
Issue
5
Pages
1127-1133
ISSN
0002-9297
DOI
10.1086/323765
Cited by
233
References
0
Language
en
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