Case series on type I gangliosidosis at a reference service for inborn errors of metabolism: from diagnostic strategies to therapeutic perspectives

Case presentation: Three cases of type I Gangliosidosis were diagnosed and followed up in our service from 2013 to 2022. These reviewed clinical relevance, diagnostic measures therapeutic proposals. The patients onset symptoms when they infants, presenting refractory epilepsy, developmental regression weight deficit. In investigation, one the presented suggestive ophthalmological characteristic with a cherry red spot macula. After extensive including metabolic research, enzymatic alterations common as β-galactosidase dysfunction quantitative tests, chromatography oligosaccharides sialyloligosaccharides urine, have already suggested biochemical diagnosis for I. addition, two had corroborated identification mutation GLB1 gene, after sequencing all coding exons this gene. Currently, is being at service, child 8 years, showing favorable performance terms longevity associated disease.