Global Journal of Medical Research, A: Neurology & Nervous System, Volume 23 Issue 3

23 Year 2023 Global Journal of Medical Research Volume XXIII Issue III Version I ( D ) A © 2023 Global Journals A Case of GM 1 Gangliosidosis Type 2 Mimicking Zellweger Syndrome [FIGURE 2], which causes a frameshift and an early truncation of the protein downstream of codon 346. The mutation in the CEP41 gene may be significant, but the gene testing reports classify it as a variant of unknown importance because it is placed in the gene's last exon and its impact on protein alteration cannot be predicted. There was a dearth of literature supporting this variety. Gene transcripts showing various variations Gene Transcript Location Variation Zygosity GLB1(-) (ENST00000030763.10) Exon 10 c.979del (p.GIn327SerfsTer11) Homozygous Gene Transcript Location Variation Zygosity CEP41(-) (ENST00000675138.1) Exon 11 C.1036_1037del (p.Asn346LeufsTer) Homozygous IV. D iscussion In this particular instance, there are a few aspects that should be brought to the forefront. The diagnosis of GM-1 Gangliosidosis Type 2 was arrived at after taking into account the clinical phenotype in addition to specific laboratory and genetic abnormalities. The condition known as juvenile GM1 gangliosidosis, which is passed down in an autosomal recessive manner and results in neurological regression in those who are affected by it, was just described. Patients affected by GM1 gangliosidosis type I begin to display clinical symptoms within the first month of their lives. People who have GM1 gangliosidosis type II continue to reach their typical neurodevelopmental milestones (juvenile form) until late infancy (late infantile form) or late childhood. This is the case even in the juvenile form. Because of this, treatment options for diseases with a later onset, such as enzyme replacement therapy, cell therapy, and bone marrow transplantation, can be more successful if molecular diagnosis is performed early on in pre-symptomatic individuals who have a positive family history. There is currently no simple biochemical test available that can be used for carrier screening in high risk people and their families [6]. It has been reported in the past that patients with type II diabetes have an enzyme activity level that is affected less severely [7]. The GM1 gangliosidosis type II and the discovered mutation in the GLB1 gene appear to be completely correlated with one another, with 100 percent phenotypic plasticity in individuals who are homozygous for the mutation. In spite of the fact that heterozygous carriers for this mutation do not appear to be suffering from any symptoms of illness, there is a risk that they will pass on the deleterious mutation to their offspring. As a consequence of this, people who have had childhood ataxia and the relatives of patients who are already well- known should get a GLB1 genetic test before getting married consanguineously. Consanguineous marriage, a family history of deaths with similar symptoms, increasing ataxia, and neurodevelopmental regression are all factors that assist medical professionals in narrowing down the list of possible alternative diagnoses and advising patients on the most appropriate genetic tests. V. C onclusion Juvenile GM1 gangliosidosis type II was shown to have an autosomal recessive variant caused by a missense mutation in the GLB1 gene in our patient. The