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<p>Inherited metabolic disorders (IMDs) are classified under rare genetic diseases almost always presenting in newborn and infants. IMDs are classified according to the clinical presentation, diagnosis and prognosis. Several factors are involved in the IMDs pathogenesis. Moreover, almost all IMDs follows the autosomal recessive inheritance pattern. At the basis of these diseases lie genetic mutations that affect metabolic pathways. The diagnosis is made by clinical manifestations in addition to biochemical tests and genetic analysis. Due to the different metabolic pathways involved, the multi-omics approaches can significantly increase diagnosis sensitivity. Early identification and diagnosis of IMD are critical to avoid death or neurological defects. In developing countries, lack of timely diagnosis exists mostly due to socioeconomic factors and unawareness. Research needs to be conducted to find better options for the treatment of IMDs. Understanding the molecular mechanisms of IMDs would be helpful in understanding the challenges that exist for the treatment of IMDs. This review aims to provide understanding regarding the pathogenesis of IMDs. Also, to highlight the challenges that exist in the effective treatment and diagnosis of IMDs.</p>

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Inherited metabolic disorders: presentation, clinical types, laboratory diagnosis and genetic markers

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年8月11日

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  • Aamir Ijaz,
  • Seyyedha Abbas,
  • Maria Shabbir,
  • Yasmin Badshah,
  • Fizzah Abid,
  • Tayyaba Afsar,
  • Suhail Razak

摘要

Inherited metabolic disorders (IMDs) are classified under rare genetic diseases almost always presenting in newborn and infants. IMDs are classified according to the clinical presentation, diagnosis and prognosis. Several factors are involved in the IMDs pathogenesis. Moreover, almost all IMDs follows the autosomal recessive inheritance pattern. At the basis of these diseases lie genetic mutations that affect metabolic pathways. The diagnosis is made by clinical manifestations in addition to biochemical tests and genetic analysis. Due to the different metabolic pathways involved, the multi-omics approaches can significantly increase diagnosis sensitivity. Early identification and diagnosis of IMD are critical to avoid death or neurological defects. In developing countries, lack of timely diagnosis exists mostly due to socioeconomic factors and unawareness. Research needs to be conducted to find better options for the treatment of IMDs. Understanding the molecular mechanisms of IMDs would be helpful in understanding the challenges that exist for the treatment of IMDs. This review aims to provide understanding regarding the pathogenesis of IMDs. Also, to highlight the challenges that exist in the effective treatment and diagnosis of IMDs.