Abstract
Gangliosidoses (GM1 and GM2 gangliosidosis) are rare, autosomal recessive progressive neurodegenerative lysosomal storage disorders caused by defects in the degradation of glycosphingolipids. We aimed to investigate clinical, biochemical and molecular genetic spectrum of Turkish patients with infantile gangliosidoses and examined the potential role of serum aspartate transaminase levels as a biomarker. We confirmed the diagnosis of GM1 and GM2 gangliosidosis based on clinical findings with specific enzyme and/or molecular analyses. We retrospectively reviewed serum aspartate transaminase levels of patients with other biochemical parameters. Serum aspartate transaminase level was elevated in all GM1 and GM2 gangliosidosis patients in whom the test was performed, along with normal alanine transaminase. Aspartate transaminase can be a biochemical diagnostic clue for infantile gangliosidoses. It might be a simple but important biomarker for diagnosis, follow up, prognosis and monitoring of the response for the future therapies in these patients.
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We sincerely thank the family of the patient for their participation, after informed consent. We also thank to Prof. Erdem Karabulut for statistical contributions.
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The study protocol was approved by the Medical Ethics Committee of Kecioren Training and Research Hospital.
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Kılıç, M., Kasapkara, Ç.S., Kılavuz, S. et al. A possible biomarker of neurocytolysis in infantile gangliosidoses: aspartate transaminase. Metab Brain Dis 34, 495–503 (2019). https://doi.org/10.1007/s11011-019-0391-y
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DOI: https://doi.org/10.1007/s11011-019-0391-y