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Article

Response to therapy of creatine transporter deficiency caused by a hypomorphic variant in SLC6A8.

Molecular genetics and metabolism - 1 Nov 2024

Longo Nicola, Voss Laura Alane, Frigeni Marta, Balakrishnan Bijina, Pasquali Marzia

Abstract excerpt

Cerebral creatine deficiency syndromes (CCDS) are rare inherited metabolic disorders caused by defective biosynthesis or transport of creatine. These conditions are characterized by reduced accumulation of creatine in the brain, mild to severe intellectual disability, global developmental delay, and speech-language disorders. The amount of brain creatine reduction needed to cause symptoms is not known. Here we...

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PMID: 39418753
DOI: 10.1016/j.ymgme.2024.108595

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