Publications by authors named "Gustavo Mottin Rizowy"
Mucolipidosis II and III (MLII and MLIII) are autosomal recessive diseases caused by pathogenic variants in GNPTAB and GNPTG genes that lead to defects in GlcNAc-1-phosphotransferase. This enzyme adds mannose 6-phosphate residues to lysosomal hydrolases, which allows enzymes to enter lysosomes. Defective GlcNAc-1-phosphotransferase causes substrate accumulation and inflammation.
View Article and Find Full Text PDFArticle Synopsis
- - Classical homocystinuria (HCU) leads to high levels of homocysteine and methionine in the blood, requiring treatment that may include B vitamin supplementation and a restricted methionine diet.
- - A study compared the gut microbiota of six HCU patients to six healthy controls, assessing factors like fecal pH, diet, and medical history through gene sequencing techniques.
- - Although there were no significant differences in overall gut microbiota diversity between the groups, HCU patients had specific shifts in bacterial populations, which could be influenced by dietary choices, supplements, and genetics.