Insights Into the COVID-19 Infection Related to Inherited Metabolic Diseases

People with respiratory problems and people prone to decompensations are particularly vulnerable to COVID-19. These characteristics are often present in patients with inherited metabolic diseases (IMDs). It is therefore conceivable that patients with IMDs are at a greater risk of infection and may present a more serious form of COVID-19 disease. Currently available data about the impact of COVID-19 on patients suffering from IMDs are very scarce and no study has been able to confirm this hypothesis. In this chapter, the authors have tried to show that the severity of COVID-19 infection in patients with IMDs is specific to the group that the disease belongs. Indeed, lysosomal storage diseases caused by impaired degradation and accumulation of metabolites in lysosomes leads to dysfunction of lysosomal and possible impairment of the COVID-19 egress process. The fact that COVID-19 disease may be considered itself as an IMD was also discussed to highlight the interference which can exist between COVID-19 disease and IMDs in a patient.

Special Issue: Rare Respiratory Diseases: A Personal and Public Health Issue

In the 1970s, the term “rare disease” was coined to describe a category of inherited metabolic diseases with low prevalence and a wide range of symptoms [...]

Inherited metabolic diseases: aminoacidopathies, organic acidemia, defects of mitochondrial β-oxidation. A brief overview

Inherited metabolic diseases are a large group of inherited monogenic diseases. Metabolic disorders can cause child disability and mortality. Tandem mass spectrometry is a powerful technology that allows to diagnosis a large number of hereditary metabolic diseases. Clinical manifestations are variable, but more often the damages of nervous system, heart, liver, kidneys, hyperammonemia, hypo/hyperglycemia take place. The disease can make its debut at any age, but the severe forms of the disease manifest at infancy. Early diagnosis and treatment can significantly improve the prognosis; many countries expand the list of diseases included in screening programs. At the beginning of 2021 in most regions of the Russian Federation mass newborn screening is carried out for five hereditary metabolic diseases. The age and the range of clinical manifestation are variable; therefore, knowledge of this pathology is very important both for pediatricians and therapists, and for specialized doctors. The article presents a brief description of next groups of metabolic diseases: aminoacidopathies, organic acidurias and fatty acid oxidation defects.