Creatine, arginine, and glycine supplementation linked to improvement in CTD case with novel SLC6A8 variant

ACD Summary: Tise et al. described a 20-month-old boy with CTD, diagnosed via urine analyses, genetic testing (which revealed a novel SLC6A8 variant), and magnetic resonance spectroscopy (a noninvasive technique that allows researchers to study the levels of chemical components of the brain’s tissues). The patient began a program of creatine, arginine, and glycine supplementation. At 40 months old (~1 year after starting the supplementation program), the patient showed improved development and weight gain; the authors described the patient as “active and playful… currently no longer requiring or receiving physical or occupational therapy”. Despite limited verbal communication, the patient is able to sign and express his wants and needs, also showing evidence of language comprehension. The authors suggested that this novel SLC6A8 variant may be more receptive to therapy. The authors further emphasized the need for enhanced newborn screening programs and suggest that CTD should be considered in patients showing developmental delays.

Parent Summary: This case report described a 20-month-old boy with CTD, which was diagnosed via urine analyses, genetic testing (which revealed a novel SLC6A8 variant), and magnetic resonance spectroscopy (a noninvasive technique that allows researchers to study the levels of chemical components of the brain’s tissues). The patient began a program of creatine, arginine, and glycine supplementation. At 40 months old (~1 year after starting the supplementation program), the patient showed improved development and weight gain; the authors described the patient as “active and playful… currently no longer requiring or receiving physical or occupational therapy”. Despite limited verbal communication, the patient is able to sign and express his wants and needs, also showing evidence of language comprehension. The authors suggested that this novel SLC6A8 variant may be more receptive to therapy. The authors further emphasized the need for enhanced newborn screening programs and suggest that CTD should be considered in patients showing developmental delays.

Link to free article: Creatine Transporter Deficiency Presenting as Failure to Thrive: A Case Report of a Novel SLC6A8 Variant Causing a Treatable but Likely Underdiagnosed Genetic Disorder

Link to PubMed: PubMed

Authors: Christina G. Tise, Melinda J. Parma, Kristina P. Cusmano-Ozog, & Dena R. Matalon

Key Terms: CTD, clinical study, Diagnostic, MRS, Supplements, genetic testing, pediatric patient, male patient