Creatine deficiency syndromes

Abstract: The creatine deficiency syndromes (CDS) are inborn errors of metabolism that compromise the synthesis and transport of creatine (Cr). Their hallmark is the virtually complete absence of Cr and phosphocreatine (PCr) in the brain, causing a predominantly neurological disease. Patients with CDS present with global developmental delay, mental retardation, speech impairment especially affecting active language, seizures, extrapyramidal movement disorder, and autism spectrum disorder (Schulze, 2003). The CDS have been discovered only recently. The three diseases, AGAT (arginine:glycine amidinotransferase) deficiency, GAMT (guanidinoacetate methyltransferase) deficiency, and CrT (creatine transporter) defect might together represent the most frequent metabolic disorders with a primarily neurological phenotype. Treatable, but easy to miss through standard diagnostic workup, this group of diseases warrants consideration in the workup for genetic mental retardation syndromes, for intractable seizure disorders, and for neurological diseases with a predominant lack of active speech.

Link to article:  https://www.sciencedirect.com/science/article/abs/pii/B9780444595652000538?via%3Dihub

PubMed: https://pubmed.ncbi.nlm.nih.gov/23622406/

Authors: Andreas Schulze

Key Terms: Multiple CCDS, Diagnostic, Clinical Study, Pediatric Patient, GAMT, AGAT, CTD