Ijaz Aamir, Abbas Seyyedha, Shabbir Maria, Badshah Yasmin, Abid Fizzah, Afsar Tayyaba, Razak Suhail
NUST School of Health Sciences, National University of Science and Technology (NUST), Islamabad, Pakistan.
Department of Biomedicine, Atta-ur-Rahman School of Applied Biosciences (ASAB), National University of Sciences and Technology (NUST), Islamabad, Pakistan.
Orphanet J Rare Dis. 2025 Aug 11;20(1):422. doi: 10.1186/s13023-025-03979-8.
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.
遗传性代谢疾病（IMDs）归类于罕见遗传病，几乎总是在新生儿和婴儿期出现。IMDs根据临床表现、诊断和预后进行分类。IMDs的发病机制涉及多个因素。此外，几乎所有IMDs都遵循常染色体隐性遗传模式。这些疾病的根本原因是影响代谢途径的基因突变。除生化检测和基因分析外，还通过临床表现进行诊断。由于涉及不同的代谢途径，多组学方法可显著提高诊断敏感性。早期识别和诊断IMDs对于避免死亡或神经缺陷至关重要。在发展中国家，由于社会经济因素和认识不足，大多存在诊断不及时的情况。需要开展研究以找到治疗IMDs的更好方法。了解IMDs的分子机制将有助于理解治疗IMDs所面临的挑战。本综述旨在提供对IMDs发病机制的认识。同时，突出有效治疗和诊断IMDs中存在的挑战。
