作者: Gustavo Mottin Rizowy , Soraia Poloni , Karina Colonetti , Karina Carvalho Donis , Priscila Thiago Dobbler
DOI: 10.1016/J.BIOCHI.2020.02.013
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摘要: Abstract Classical homocystinuria (HCU) is characterized by increased plasma levels of total homocysteine (tHcy) and methionine (Met). Treatment may involve supplementation B vitamins essential amino acids, as well restricted Met intake. Dysbiosis has been described in some inborn errors metabolism, but not investigated HCU. The aim this study was to investigate the gut microbiota HCU patients on treatment. Six unrelated (males = 5, median age = 25.5 years) six age-and-sex-matched healthy controls age = 24.5 had their fecal through partial 16S rRNA gene sequencing. Fecal pH, a 3-day dietary record, medical history, current medications were recorded for both groups. All nonresponsive pyridoxine Met-restricted diet presented with high tHcy. Oral folate (n = 6) (n = 5), oral intake betaine (n = 4), IM vitamin B12 reported only group. Patients decreased daily fat, cholesterol, D, selenium compared (p