Ruppen Nalbandian1,2, Hyla Allouche-Arnon1,2, J. M. Gomori1, Simon Edvardson3, Orly Elpeleg4, Rachel Katz-Brull1
1Department of Radiology, Hadassah Hebrew University Medical Center, Jerusalem, Israel; 2Department of Physiology, Faculty of Medicine, The Hebrew University of Jerusalem, Jerusalem, Israel; 3Pediatric Neurology Unit, Hadassah Hebrew University Medical Center, Jerusalem, Israel; 4Metabolic Diseases Unit, Hadassah Hebrew University Medical Center, Jerusalem, Israel
Creatine (Cr) and phosphocreatine (PCr) are essential for the storage and transmission of phosphate-bound energy in muscle and brain. Therefore, Cr deficiency is a severe condition leading to developmental delays. Two siblings were suspected to suffer from Cr deficiency syndrome following the clinical phenotype and homozygosity mapping. Brain MRS confirmed the Cr deficiency diagnosis and was in agreement with the rare mutation in a gene encoding the AGAT enzyme (the first enzyme in the Cr biosynthetic pathway). We report on the muscle and brain 1H-MRS characteristics of patients with the rare AGAT deficiency.