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OP-104 Utilizing lactate dehydrogenase and aspartate transaminase as diagnostic biomarkers in GM2 gangliosidoses
  1. Muhammet Terzioğlu1,
  2. Dilşad Türkdoğan2,
  3. Emine Genç3,
  4. Emel Yılmaz Gümüş3,
  5. Gülten Öztürk2,
  6. Şenol Demir4,
  7. Bilgen Bilge Geçkinli4,
  8. Enver Yaya3,
  9. Burcu Hişmi3,
  10. Sebile Kılavuz3
  1. 1Marmara University, Department of Pediatrics, İstanbul, Turkey
  2. 2Marmara University, Department of Pediatrics, Neurology Unit, İstanbul, Turkey
  3. 3Marmara University, Department of Pediatrics, Metabolism Unit, İstanbul, Turkey
  4. 4Marmara University, Department of Medical Genetics, İstanbul, Turkey


Aim GM2 gangliosidoses, comprising Tay-Sachs disease, Sandhoff disease, and the AB variant, stem from mutations in genes encoding β-hexosaminidase subunits or the GM2 activator protein(GM2AP), resulting in GM2 ganglioside accumulation within lysosomes.

Material and Method This study included eighteen patients with GM2 Gangliosidosis(8 Tay-Sachs,8 Sandhoff,2 AB variant) at the Pediatric Metabolism Department. Retrospective data encompassing laboratory tests and radiological investigations were recorded. The (SymptomProfileforchildrenwithneurodegenerativecondition) SproND questionnaire, evaluating neurobehavioral status, mobility, symptoms, breathing, swallowing difficulties, and daily activities, was administered to the patients‘ mothers.

Results Among the 18 patients (11F,7M) 6 were deceased (2 Tay-Sachs Disease, 4 Sandhoff Disease). Ten patients necessitated gastrostomy, while 8 underwent tracheostomy. Cherry red spot and hyperacusis were observed in all patients. The mean age at diagnosis was at 13.5 ± 4.2 months. Laboratory findings indicated mild elevations in AST (mean: 133.4 U/L ± 42.5, range: 62–221) and moderate elevations in LDH (mean: 754.4 U/L, range: 426–1030). The mean BUN level was 7.54 ± 2.6 (range: 4–14), suggesting poor nutritional status with levels below 10. Constipation afflicted thirteen patients, while one suffered from diarrhea. A Tay-Sachs Disease patient was diagnosed with distal renal tubular acidosis via Whole Exome Sequencing (WES) investigation. Sleep hygiene was disrupted in 40% of patients. The average SproND questionnaire score was 33.7 ± 6.5 (range: 21–42).

Conclusions In our patients, elevated AST and LDH levels may serve as a simple yet important test to consider GM2 gangliosidosis in patients with neurodevelopmental delay. Additionally, it may be beneficial in preventing delays especially in diagnosis of GM2AP deficiencies. In 10 patients, constipation occurred during infancy, while in 3 cases it appeared in advanced stages, indicating the significance of gastrointestinal follow-up. In the SProND assessment of our patients, low scores in the neurobehavioral and pain categories were found to be insignificant in comparing to other neurodegenerative disorders.

  • GM2 Gangliosidosis
  • AST
  • LDH
  • Constipation
  • Neurodegenerative

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