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S-adenosylhomocysteine (SAH) hydrolase deficiency is a rare autosomal recessive disorder caused by pathogenic variants of the gene AHCY. Loss of SAH hydrolase causes SAH accumulation and impairs the methionine/S-adenosyl...

ObjectivesMevalonate kinase deficiency (MKD) is a metabolic disorder caused by a block in the mevalonate pathway, leading to impaired synthesis of cholesterol and isoprenoids. Clinically, MKD presents with recurrent infl...