GM1 - gangliosidosis in a Nigerian infant: A case report
Abstract
Abstract: Gangliosidoses belong to the group of genetic lipid metabolism disorders, caused by defects of lysosome enzymes, inherited as an autosomal recessive trait. Gangliosidosis GM1 is caused by the deficiency of the acid beta galactosidase (GLB11) resulting in the storage of the substrate GM1 ganglioside in brain and visceral organs. GM1 gangliosidosis comprises three phenotypes, depending on the age of onset: an infantile, juvenile and adult type. In the infantile type dysmorphic features, severe psychomotor retardation, hepatosplenomegaly, bone changes and a cherry red spot in the macular region are seen. The juvenile GM1 gangliosidosis has no such external distinguishing features. In the adult type behavioural problems, dementia, extrapyramidal problems are specifically prominent. The authors present symptoms, clinical course and laboratory findings of a one year old boy with a diagnosed GM1 gangliosidosis. He presented with skin rashes since birth, delay in achievement of developmental milestones, progressive weight loss and recurrent diarrhoea of six months duration.
Keywords: Lipid storage diseases, GM1 gangliosidosis, Acid Beta galactosidase deficiency
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