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First described in rats in 1985 ( ex vivo several hours longer

Upon identification of several isoforms of amyloid precursor protein ( APP ) mRNA with a deletion followed by an insertion that accounted for epigenetic control of genomic rearrangements of APP gene in fibroblasts of patients with LNS, Nguyen proposed a role of epistasis between mutated HPRT1 and APP genes affecting the regulation of alternative APP pre-mRNA splicing as a possible pathophysiological mechanism of the severe neurobehavioral phenotype of LNS ( Cerebral Creatine Deficiency Syndromes Creatine serves as a donor of high-energy phosphates for the synthesis of hydrolyzed adenosine triphosphate

Statements Author contributions BEL, SK, GF-S, PS, and D-SC wrote the manuscript

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