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Although in up to 95% of cases this disease is caused by de novo loss-of-function mutations in the X-linked methyl-CpG binding protein 2 gene, it is a multisystem disease associated also with mitochondrial metabolic imbalance

Search strategy A comprehensive literature search was performed across multiple electronic databases including PubMed, Scopus, Web of Science, and Google scholar to identify relevant studies investigating the effects of creatine supplementation on kidney function in human subjects from January 2000 to March 2025

Koeth's 2013 study (PMID 23563705) showed that gut bacteria convert dietary carnitine into trimethylamine, which the liver then oxidizes into TMAO (trimethylamine-N-oxide)

Reported gene alterations in MPNST include NF1, CDKN2A, CDKN2B, TP53, TYK2, EED, and SUZ12 mutations and deletions, and EGFR, PDGFRA, and MET amplification [2, 16]

Karlmark KR, Wasmuth HE, Trautwein C, Tacke F (2008) Chemokine-directed immune cell infiltration in acute and chronic liver disease