top of page


Navigating the metabolic labyrinth

With the knowledge of the variants in more than 750 genes of metabolic diseases, our rapid tests and our extensive experience in genetic metabolic diseases can help you diagnose and control the metabolic disorder of your patients quickly and correctly.


Hereditary metabolic diseases are a large class of genetic diseases that involve disorders of metabolism. The majority is due to defects of individual genes that encode specific enzymes. Lysosomal storage disorders (LSD) are one of the largest groups of metabolic diseases. Although they are rare individually, LSD together occur in at least 1/5000 live births 1,2; It is estimated that every 30 minutes a child is born with an inherited LSD. Most of these disorders are inherited in an autosomal recessive manner, such as Niemann-Pick disease and Gaucher disease, and some of them are inherited recessively linked to X, such as Fabry disease and Hunter syndrome (MPS). II). In most disorders, problems arise due to the accumulation of natural substances that then become toxic, or to the effects of reduced ability to synthesize essential compounds.


The selection of the most appropriate genetic tests and also the interpretation of the results should be done with careful consideration of the clinical symptoms in each case. It is important to look for combinations of genetic changes in the genes, as well as to investigate in detail the relevance of any biomarker; This is also particularly useful for understanding the clinical characteristics of patients undergoing enzyme replacement therapy.


The effectiveness of some modern treatment models that use small molecules will depend on the genetics of the individual patient. With a possible therapeutic response in only 30-45% of all mutations, it is mandatory to genetically classify patients carefully to ensure that they receive the most appropriate treatment.


The existing and future research aims to understand the organelles at the core of pathogenesis develop new biomarkers and discover possible pharmacological targets by navigating through metabolic disorders at the subcellular level. The dissemination of this knowledge to doctors and patients allows them to search for the latest diagnoses, biomarkers and therapies available to monitor and control the many hereditary metabolic disorders that exist.

Reasons for Reference


  • People who present the most common symptoms of a metabolic disease usually include neurological symptoms such as developmental delay, seizures, lethargy, ataxia, behavioral abnormalities, deafness, blindness, and, in addition, findings of organomegaly and ophthalmology.


  • Individuals with a positive family history of metabolic disease.


  • Individuals without a positive family history but with symptoms that resemble the indication of a specific disease.


  • Individuals with a negative family history, but suspicious, to perform the appropriate genetic counseling (prenatal tests are recommended in the families of affected individuals).

bottom of page