Value of Magnetic Resonance Spectroscopy for Diagnosis of Creatine Deficiency Syndrome

Abstract

Creatine deficiency syndromes are congenital metabolic diseases characterized by decreased cerebral creatine levels as a result of disorders in creatine synthesis and transport. Therefore, magnetic resonance spectroscopy is a valuable tool for diagnosis. This disease can be explained by congenital disorders occurring in three forms at different stages of the creatine metabolic pathway. Two of disorders arise autosomal recessively in creatine biosynthesis, arginine-glycine amidinotransferase, and guanidinoacetate methyltransferase enzyme deficiency. The third disorder occurs as a result of an SLC6A8 variant in the form of creatine carrier protein deficiency. In this article, a patient with SLC6A8 carrier deficiency is presented.

Keywords

creatine - deficiency - brain - SLC6A8 - MRS

• References

• 1 Salomons GS, van Dooren SJ, Verhoeven NM. et al. X-linked creatine-transporter gene (SLC6A8) defect: a new creatine-deficiency syndrome. Am J Hum Genet 2001; 68 (06) 1497-1500
• 2 Kreis R, Ross BD. Cerebral metabolic disturbances in patients with subacute and chronic diabetes mellitus: detection with proton MR spectroscopy. Radiology 1992; 184 (01) 123-130
• 3 Kreis R, Ross BD, Farrow NA, Ackerman Z. Metabolic disorders of the brain in chronic hepatic encephalopathy detected with H-1 MR spectroscopy. Radiology 1992; 182 (01) 19-27
• 4 Cecil KM, DeGrauw TJ, Salomons GS, Jakobs C, Egelhoff JC, Clark JF. Magnetic resonance spectroscopy in a 9-day-old heterozygous female child with creatine transporter deficiency. J Comput Assist Tomogr 2003; 27 (01) 44-47
• 5 Anselm IA, Alkuraya FS, Salomons GS. et al. X-linked creatine transporter defect: a report on two unrelated boys with a severe clinical phenotype. J Inherit Metab Dis 2006; 29 (01) 214-219
• 6 Edvardson S, Korman SH, Livne A. et al. L-arginine:glycine amidinotransferase (AGAT) deficiency: clinical presentation and response to treatment in two patients with a novel mutation. Mol Genet Metab 2010; 101 (2-3): 228-232
• 7 Cecil KM, Salomons GS, Ball Jr WS. et al. Irreversible brain creatine deficiency with elevated serum and urine creatine: a creatine transporter defect?. Ann Neurol 2001; 49 (03) 401-404
• 8 Almeida LS, Verhoeven NM, Roos B. et al. Creatine and guanidinoacetate: diagnostic markers for inborn errors in creatine biosynthesis and transport. Mol Genet Metab 2004; 82 (03) 214-219
• 9 Chilosi A, Leuzzi V, Battini R. et al. Treatment with L-arginine improves neuropsychological disorders in a child with creatine transporter defect. Neurocase 2008; 14 (02) 151-161
• 10 Fons C, Sempere A, Arias A. et al. Arginine supplementation in four patients with X-linked creatine transporter defect. J Inherit Metab Dis 2008; 31 (06) 724-728