A study conducted by the Sima University of Navarra, in collaboration with CIBER and European researchers, identified Three new cases – the first in a girl – of porphyria due to ALA dehydratase deficiency (ADP), which is the rarest and most severe type of porphyria that affects early childhood, of which only 10 cases have been described in men so far.
Hepatic porphyria is a type of orphan genetic disease that affects the synthesis of hemoglobin and other hemoproteins. Its most common symptom is severe abdominal pain, although… In more severe cases it can cause severe neurological changes.
“This work provides essential information to understand Genetic and environmental mechanisms Which is involved in this extremely rare porphyria and its relationship to heavy metal poisoning. Specifically, we have described Five cases of acute lead poisoning in adultswhich clinically mimics the childhood disease,” explains Antonio Fontanellas, principal investigator of the CIBER Liver and Digestive Diseases (CIBEREHD) area of the Liver Diseases: Porphyrias and Carcinogenesis group at Cima and director of the work.
in spite of Lead poisoning They have become less frequent and thanks to preventative measures and public awareness, they still occur Accidental exposures. This mineral can be found in old pipes, utensils, cutlery, cosmetics, bullet casings, illegal alcoholic beverages, adulterated opium, or some herbal supplements. Lead is easily absorbed and accumulates in the blood and other tissues, where it can cause harm even in small amounts. Using an approach that combines genetic and biochemical analyzes and an innovative experimental model for functional studies, the research team identified new gene variants with different biochemical expression and behavior.
The results reveal significant molecular heterogeneity, which may explain the different susceptibility of some people to lead poisoning. “Given its extreme rarity, each well-studied patient represents a unique opportunity to advance understanding of this disease,” the research group concluded.