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Dictionary » Generalized gangliosidosis GM1
 

Generalized gangliosidosis GM1

Introduction: Generalized gangliosidosis GM1

Description of Generalized gangliosidosis GM1

Generalized gangliosidosis GM1: A ganglioside storage disorder due to beta-galactosidase (EC 3.2.1.23) deficiency and abnormal accumulation of GM1 ganglioside in neurons and in hepatic, splenic and other histiocytes and in renal glomerular epithelium due. The symptoms appear shortly after birth; they include retarded psychomotor development, failure to thrive, startle reaction to sounds, feeding difficulty, hepatosplenomegaly, Hurler (gargoyle-like) facies (coarse facial features, macrocephaly, broad nose, frontal bossing, long philtrum, prominent maxilla, and macroglossia), bone defects similar to those seen in Hurler syndrome (mainly dysostosis multiplex and long bone and vertebral anomalies), and other abnormalities. Severe cerebral degeneration follows with death in the first two years of life usually due to bronchopneumonia. The affected infants are often blind, deaf, and quadriplegic.
Source: Diseases Database

Generalized gangliosidosis GM1: Related Topics

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Source: Diseases Database

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