Juvenile GM>1< gangliosidosis*del

Common Name(s)

Juvenile GM>1< gangliosidosis*del

GM1-gangliosidosis type II is an autosomal recessive lysosomal storage disease characterized by slowly progressive generalized neurodegeneration and mild skeletal changes, with onset between 7 months and 3 years of age. Unlike the severe infantile type I, type II is usually not associated with macular cherry-red spots or organomegaly. Within type II, those with somewhat earlier onset and earlier death are considered to have the 'late-infantile' form, whereas those with slightly later onset and survival into late childhood are referred to as having the 'juvenile' form ({1:Caciotti et al., 2003}). However, there is no strict age marker to distinguish between these 2 type II forms. GLB1 enzyme activity in type II ranges from approximately 1 to 4% of control values ({6:Nishimoto et al., 1991}; {14:Yoshida et al., 1991}).
 

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Condition Specific Organizations

Following organizations serve the condition "Juvenile GM>1< gangliosidosis*del" for support, advocacy or research.

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Scientific Literature

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Symptoms, Diagnosis, and Treatment

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