Cerebral Creatine Deficiency: Black cat in the coal celler

Abstract: Cerebral creatine deficiency syndrome (CCDS) is an inborn error of metabolism that includes two autosomal recessive
creatine biosynthesis defects [arginine–glycine amidinotransferase (AGAT) and guanidinoacetate methyltransferase (GAMT) deficiency] and an X-linked sodium and chloride dependent creatine transporter (CRTR) defect (Fig. 1). Creatine plays an important role in the brain as neurotransmitter or modulator [1]. CCDS can be recognized by the marked reduction of the creatine signal in magnetic resonance spectroscopy (MRS) of the brain which is often overlooked unless diligently searched for. We present a child in whom MRS of the brain helped to identify this rare diagnosis and remarkable improvement was noted after creatine supplementation.

Link to article: https://doi.org/10.1007/s13760-020-01437-9

PubMed:  https://pubmed.ncbi.nlm.nih.gov/32681499/

Authors: Ajith Cherian, K. P. Divya

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