Importância dos marcadores genéticos e biológicos da Galactosemia

Abstract

Hereditary genetic diseases of metabolic origin or inborn errors of metabolism (IME) are usually transmitted by autosomal recessive inheritance (HAR). Among the main diseases registered as metabolic and that affect the world population in general, we have galactosemia – a disease promoted by the deficiency of any enzyme in the degradation pathway of the monosaccharide galactose in the body. This disease can affect several organs, characterized by an increase in the plasma concentration of galactose metabolism intermediates, having four gene types: GALT, GALK, GALE and GALM, which, when mutated, generate the four types of Galactosemias: I, II, III and IV, respectively. The main symptoms that characterize them are: vomiting, jaundice, diarrhea, abnormal body growth, hypoglycemia, kidney damage, seizures, and hepatomegaly. These clinical features are similar to other diseases of the gastrointestinal system, which makes diagnosis difficult; Therefore, the objective of this study is to clarify the importance of genetic and biological markers of the disease through a narrative review involving exploratory research through bibliographic and electronic sources. Based on the pathological and genetic perspective of Galactosemia, genetic and biological markers are performed for the purpose of more directive diagnosis. Among the markers performed, of variable evaluations, we have: neonatal (heel prick tests, molecular sequencing of new generations); genic/genotypic paternal; hematological (blood count, hemoglobin levels); biochemical (identification of galactitol, total glucose, total galactose, identification of enzymes, vitamin dosages, minerals and FSH/LH hormonal evaluations). Once the disease is diagnosed, treatment consists of a galactose-restricted diet, introduction of supplements, and aldose reductase inhibitor medications. Once this knowledge is passed on to health professionals and the population in general, Galactosemia acquires a greater dimension and distribution of popular awareness and, consequently, its damage is minimized in society.