TY  - JOUR
TI  - Single Institutional Experience with GM1 Gangliosidosis:  Clinical and Laboratory Results of 14 Patients
AB  - Background: GM1 gangliosidosis is an autosomal recessive  lysosomal storage disease caused by biallelic mutations in the GLB1  gene. Neurodegeneration, hypotonia, visceromegaly, macular cherryred 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.
AU  - Güvenkaya, Gökhan
AU  - Akar, Halil Tuna
AU  - Çıkı, Kısmet
AU  - coskun, turgay
AU  - Sivri, H. Serap
AU  - tokatli, aysegul
AU  - DURSUN, Ali
AU  - Erdal, İzzet
AU  - YILDIZ, YILMAZ
AU  - KAHRAMAN, Ayca Burcu
DO  - 10.4274/balkanmedj.galenos.2022.2022-3-75
PY  - 2022
JO  - Balkan Medical Journal
VL  - 39
IS  - 5
SN  - 2146-3123
SP  - 345
EP  - 350
DB  - TRDizin
UR  - http://search/yayin/detay/1132452
ER  -