Abstract:
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.
