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[The role of ophthalmological examination in the diagnosis of gangliosidosis GM1].
Klin Oczna 2011; 113(7-9):266-9KO

Abstract

Gangliosidosis GM1 belongs to a group of lysosomal storage diseases and results from the deficiency of acidic beta-galactosidase activity. The enzyme is essential for the degradation of ganglioside GM1 and its derivatives. The disease causes multi-organ injury, however accumulation of ganglioside GM1 mainly in the brain white and gray matter results in predomination of neurological symptoms. Based on the actual knowledge--the condition is untreatable and especially in the very severe infantile form, the duration of the survival is very short. One of the characteristic symptoms of some lysosomal storage diseases, including gangliosidosis GM1, is "cherry-red" spot found in the fundus of the eye. In the publication the clinical course of gangliosidosis GM1 in two infants is presented. The value of an ophthalmological examination in the diagnosis of this rare condition has been emphasized.

Authors+Show Affiliations

Z Kliniki Pediatrii, Endokrynologii, Diabetologii, Chorób Metabolicznych i Kardiologii Wieku Rozwojowego Pomorskiego Uniwersytetu Medycznego w Szczecinie. zdebela@op.plNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
English Abstract
Journal Article

Language

pol

PubMed ID

22256571

Citation

Krzywińska-Zdeb, Elzbieta, et al. "[The Role of Ophthalmological Examination in the Diagnosis of Gangliosidosis GM1]." Klinika Oczna, vol. 113, no. 7-9, 2011, pp. 266-9.
Krzywińska-Zdeb E, Gizewska M, Modrzejewska M, et al. [The role of ophthalmological examination in the diagnosis of gangliosidosis GM1]. Klin Oczna. 2011;113(7-9):266-9.
Krzywińska-Zdeb, E., Gizewska, M., Modrzejewska, M., Romanowska, H., Stecewicz, I., Pawłowska, A., ... Walczak, M. (2011). [The role of ophthalmological examination in the diagnosis of gangliosidosis GM1]. Klinika Oczna, 113(7-9), pp. 266-9.
Krzywińska-Zdeb E, et al. [The Role of Ophthalmological Examination in the Diagnosis of Gangliosidosis GM1]. Klin Oczna. 2011;113(7-9):266-9. PubMed PMID: 22256571.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [The role of ophthalmological examination in the diagnosis of gangliosidosis GM1]. AU - Krzywińska-Zdeb,Elzbieta, AU - Gizewska,Maria, AU - Modrzejewska,Monika, AU - Romanowska,Hanna, AU - Stecewicz,Iwona, AU - Pawłowska,Anna, AU - Tuziak,Martyna, AU - Walczak,Mieczysław, PY - 2012/1/20/entrez PY - 2012/1/20/pubmed PY - 2012/2/9/medline SP - 266 EP - 9 JF - Klinika oczna JO - Klin Oczna VL - 113 IS - 7-9 N2 - Gangliosidosis GM1 belongs to a group of lysosomal storage diseases and results from the deficiency of acidic beta-galactosidase activity. The enzyme is essential for the degradation of ganglioside GM1 and its derivatives. The disease causes multi-organ injury, however accumulation of ganglioside GM1 mainly in the brain white and gray matter results in predomination of neurological symptoms. Based on the actual knowledge--the condition is untreatable and especially in the very severe infantile form, the duration of the survival is very short. One of the characteristic symptoms of some lysosomal storage diseases, including gangliosidosis GM1, is "cherry-red" spot found in the fundus of the eye. In the publication the clinical course of gangliosidosis GM1 in two infants is presented. The value of an ophthalmological examination in the diagnosis of this rare condition has been emphasized. SN - 0023-2157 UR - https://www.unboundmedicine.com/medline/citation/22256571/[The_role_of_ophthalmological_examination_in_the_diagnosis_of_gangliosidosis_GM1]_ L2 - http://www.diseaseinfosearch.org/result/9577 DB - PRIME DP - Unbound Medicine ER -