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<p>Alpha-methylacyl-CoA racemase (AMACR) deficiency is an autosomal recessive disorder of peroxisomal β-oxidation of branched-chain fatty acids and C27-bile acids. Since its first report in 2000, several children were diagnosed via molecular analyses, mostly due to elevated liver enzymes. Here we present an early-onset form of AMACR deficiency in clinically asymptomatic child who was diagnosed upon incidental findings of elevated liver enzymes and glucosuria. This case expands the phenotypic (biochemical) spectrum of AMACR deficiency. The manuscript was enriched by the literature review on patients with AMACR deficiency diagnosed in childhood. We recommend to perform serum/plasma peroxisomal metabolites, including VLCFA, bile acids intermediates and phitanic and pristanic acid, in every children with persistently elevated liver enzymes, especially with coagulopathy and with or without cholestatic jaundice.</p>

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Alpha-methylacyl-CoA racemase (AMACR) deficiency: report on novel patient and literature review

  • 期刊论文

  • 发表日期：

    2026年3月2日

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  • Patryk Lipiński,
  • Joanna Rusecka,
  • Agnieszka Sobczyńska-Tomaszewska,
  • Frederic Maxime Vaz,
  • Teresa Stradomska,
  • Anna Tylki-Szymańska

摘要

Alpha-methylacyl-CoA racemase (AMACR) deficiency is an autosomal recessive disorder of peroxisomal β-oxidation of branched-chain fatty acids and C27-bile acids. Since its first report in 2000, several children were diagnosed via molecular analyses, mostly due to elevated liver enzymes. Here we present an early-onset form of AMACR deficiency in clinically asymptomatic child who was diagnosed upon incidental findings of elevated liver enzymes and glucosuria. This case expands the phenotypic (biochemical) spectrum of AMACR deficiency. The manuscript was enriched by the literature review on patients with AMACR deficiency diagnosed in childhood. We recommend to perform serum/plasma peroxisomal metabolites, including VLCFA, bile acids intermediates and phitanic and pristanic acid, in every children with persistently elevated liver enzymes, especially with coagulopathy and with or without cholestatic jaundice.