Single Institutional Experience with GM1 Gangliosidosis: Clinical and Laboratory Results of 14 Patients
Background: GM1 gangliosidosis is an autosomal recessive lysosomal storage disease caused by biallelic mutations in the GLB1 gene. Neurodegeneration, hypotonia, visceromegaly, macular cherry-red spots, skeletal dysplasia, and coarse and dysmorphic face are the major clinical features. Aims: To eval...
| Main Authors: | , , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Galenos Publishing House
2022-09-01
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| Series: | Balkan Medical Journal |
| Online Access: | http://balkanmedicaljournal.org/abstract.php?lang=en&id=2422 |
| _version_ | 1797919372491096064 |
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| author | Halil Tuna Akar Yılmaz Yıldız Gökhan Güvenkaya Kısmet Çıkı Ayşe Burcu Kahraman İzzet Erdal Turgay Coşkun Ali Dursun Hatice Serap Sivri Ayşegül Tokatlı |
| author_facet | Halil Tuna Akar Yılmaz Yıldız Gökhan Güvenkaya Kısmet Çıkı Ayşe Burcu Kahraman İzzet Erdal Turgay Coşkun Ali Dursun Hatice Serap Sivri Ayşegül Tokatlı |
| author_sort | Halil Tuna Akar |
| collection | DOAJ |
| description | Background: GM1 gangliosidosis is an autosomal recessive lysosomal storage disease caused by biallelic mutations in the GLB1 gene. Neurodegeneration, hypotonia, visceromegaly, macular cherry-red spots, skeletal dysplasia, and coarse and dysmorphic face are the major clinical features.
Aims: To evaluate the demographic and clinical data of patients with GM1 gangliosidosis in a single center.
Study Design: A retrospective clinical study.
Methods: This study included patients followed at Hacettepe University İhsan Doğramacı Children’s Hospital Pediatric Metabolism Unit with the diagnosis of GM1 gangliosidosis between 1988 and 2021. Hospital records of the patients were reviewed for demographic, clinical, and laboratory findings.
Results: Fourteen patients were included in the study and 10 (71.4%) were male. The age at onset of clinical symptoms was between 0 and 5 months, and the median time to diagnosis after the first symptom was 4.3 (0-13) months. Motor delay (54%) was the most common initial symptom. The median follow-up period was 14.8 (0.4-92.2) months. Twelve patients (85.7%) died, and all deaths occurred before the age of 24 months. The median survival was 21.3 (95% confidence interval, 15.5-24.9) months. Higher leukocyte beta-galactosidase activity correlated with later age at onset (ρ = 0.575), later age at diagnosis (ρ = 0.618), and longer diagnostic delay (ρ = 0.702) (ρ < 0.05).
Conclusion: Median survival in patients with GM1 gangliosidosis is less than 24 months. Beta-galactosidase enzyme activity may be associated with clinical onset and time of diagnosis in these patients. |
| first_indexed | 2024-04-10T13:45:32Z |
| format | Article |
| id | doaj.art-5e0ef359b03e483e9e005be2d4c153d5 |
| institution | Directory Open Access Journal |
| issn | 2146-3131 2146-3123 |
| language | English |
| last_indexed | 2024-04-10T13:45:32Z |
| publishDate | 2022-09-01 |
| publisher | Galenos Publishing House |
| record_format | Article |
| series | Balkan Medical Journal |
| spelling | doaj.art-5e0ef359b03e483e9e005be2d4c153d52023-02-15T16:11:00ZengGalenos Publishing HouseBalkan Medical Journal2146-31312146-31232022-09-0139534535010.4274/balkanmedj.galenos.2022.2022-3-75Single Institutional Experience with GM1 Gangliosidosis: Clinical and Laboratory Results of 14 PatientsHalil Tuna Akar0https://orcid.org/0000-0003-1982-8046Yılmaz Yıldız1https://orcid.org/0000-0001-9076-1388Gökhan Güvenkaya2https://orcid.org/0000-0001-6454-4806Kısmet Çıkı3https://orcid.org/0000-0002-6800-8848Ayşe Burcu Kahraman4https://orcid.org/0000-0002-9563-0296İzzet Erdal5https://orcid.org/0000-0001-7645-2829Turgay Coşkun6https://orcid.org/0000-0001-9589-0445Ali Dursun7https://orcid.org/0000-0003-1982-8046Hatice Serap Sivri8https://orcid.org/0000-0001-8260-9984Ayşegül Tokatlı9https://orcid.org/0000-0003-2812-9319Department of Pediatrics, Pediatric Metabolism Unit, Faculty of Medicine, Hacettepe University, Ankara, TurkeyDepartment of Pediatrics, Pediatric Metabolism Unit, Faculty of Medicine, Hacettepe University, Ankara, TurkeyDepartment of Pediatrics, Faculty of Medicine, Hacettepe University, Ankara, TurkeyDepartment of Pediatrics, Pediatric Metabolism Unit, Faculty of Medicine, Hacettepe University, Ankara, TurkeyDepartment of Pediatrics, Pediatric Metabolism Unit, Faculty of Medicine, Hacettepe University, Ankara, TurkeyDepartment of Pediatrics, Pediatric Metabolism Unit, Faculty of Medicine, Hacettepe University, Ankara, TurkeyDepartment of Pediatrics, Pediatric Metabolism Unit, Faculty of Medicine, Hacettepe University, Ankara, TurkeyDepartment of Pediatrics, Pediatric Metabolism Unit, Faculty of Medicine, Hacettepe University, Ankara, TurkeyDepartment of Pediatrics, Pediatric Metabolism Unit, Faculty of Medicine, Hacettepe University, Ankara, TurkeyDepartment of Pediatrics, Pediatric Metabolism Unit, Faculty of Medicine, Hacettepe University, Ankara, TurkeyBackground: GM1 gangliosidosis is an autosomal recessive lysosomal storage disease caused by biallelic mutations in the GLB1 gene. Neurodegeneration, hypotonia, visceromegaly, macular cherry-red spots, skeletal dysplasia, and coarse and dysmorphic face are the major clinical features. Aims: To evaluate the demographic and clinical data of patients with GM1 gangliosidosis in a single center. Study Design: A retrospective clinical study. Methods: This study included patients followed at Hacettepe University İhsan Doğramacı Children’s Hospital Pediatric Metabolism Unit with the diagnosis of GM1 gangliosidosis between 1988 and 2021. Hospital records of the patients were reviewed for demographic, clinical, and laboratory findings. Results: Fourteen patients were included in the study and 10 (71.4%) were male. The age at onset of clinical symptoms was between 0 and 5 months, and the median time to diagnosis after the first symptom was 4.3 (0-13) months. Motor delay (54%) was the most common initial symptom. The median follow-up period was 14.8 (0.4-92.2) months. Twelve patients (85.7%) died, and all deaths occurred before the age of 24 months. The median survival was 21.3 (95% confidence interval, 15.5-24.9) months. Higher leukocyte beta-galactosidase activity correlated with later age at onset (ρ = 0.575), later age at diagnosis (ρ = 0.618), and longer diagnostic delay (ρ = 0.702) (ρ < 0.05). Conclusion: Median survival in patients with GM1 gangliosidosis is less than 24 months. Beta-galactosidase enzyme activity may be associated with clinical onset and time of diagnosis in these patients.http://balkanmedicaljournal.org/abstract.php?lang=en&id=2422 |
| spellingShingle | Halil Tuna Akar Yılmaz Yıldız Gökhan Güvenkaya Kısmet Çıkı Ayşe Burcu Kahraman İzzet Erdal Turgay Coşkun Ali Dursun Hatice Serap Sivri Ayşegül Tokatlı Single Institutional Experience with GM1 Gangliosidosis: Clinical and Laboratory Results of 14 Patients Balkan Medical Journal |
| title | Single Institutional Experience with GM1 Gangliosidosis: Clinical and Laboratory Results of 14 Patients |
| title_full | Single Institutional Experience with GM1 Gangliosidosis: Clinical and Laboratory Results of 14 Patients |
| title_fullStr | Single Institutional Experience with GM1 Gangliosidosis: Clinical and Laboratory Results of 14 Patients |
| title_full_unstemmed | Single Institutional Experience with GM1 Gangliosidosis: Clinical and Laboratory Results of 14 Patients |
| title_short | Single Institutional Experience with GM1 Gangliosidosis: Clinical and Laboratory Results of 14 Patients |
| title_sort | single institutional experience with gm1 gangliosidosis clinical and laboratory results of 14 patients |
| url | http://balkanmedicaljournal.org/abstract.php?lang=en&id=2422 |
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