The GM1 gangliosidoses, usually shortened to GM1, are gangliosidoses caused by mutation in the GLB1 gene resulting in a deficiency of beta-galactosidase. The deficiency causes abnormal storage of acidic lipid materials in cells of the central and peripheral nervous systems, but particularly in the nerve cells, resulting in progressive neurodegeneration. GM1 is a rare lysosomal storage disorder with a prevalence of 1 to every 100,000 to 200,000 live births worldwide, although rates are higher in some regions. Cause
GM1 Gangliosidoses disorders are caused by mutations in the GLB1 gene, which codes for lysosomal hydrolase, acid beta-galactosidase (β-gal). Low levels of β-gal cause an accumulation of GM1 gangliosides. They are inherited, autosomal recessive sphingolipidoses, a class of lipid storage disorders. Diagnosis
Diagnosis of GM1 can be obtained by genetic and enzymatic testing. Types
GM1 has three forms classified by age of onset. Type 1: early infantile
Type 2: late infantile/juvenile
Type 3: adult

Early infantile GM1
Symptoms of early infantile GM1 (the most severe subtype, with onset shortly after birth) may include neurodegeneration, seizures, liver enlargement (hepatomegaly), spleen enlargement (splenomegaly), coarsening of facial features, skeletal irregularities, joint stiffness, distended abdomen, muscle weakness, exaggerated startle response to sound, and problems with gait.About half of affected patients develop cherry-red spots in the eye. Children may be deaf and blind by age 1 and often die by age 3 from cardiac complications or pneumonia.
Ezetimibe/rosuvastatin, sold under the brand name Ridutrin among others, is a combination medication used to treat high cholesterol. In some countries it is sold as a kit or a pack containing two distinct pills. It is also available in the form of a composite package containing the two separate pills.The combination was approved for medical use in the United States in March 2021. Medical uses
Ezetimibe/rosuvastatin is indicated as an adjunct to diet in people with primary non-familial hyperlipidemia to reduce low-density lipoprotein cholesterol (LDL-C); and alone or as an adjunct to other LDL-C-lowering therapies in people with homozygous familial hypercholesterolemia (HoFH) to reduce LDL-C.

References
External links
"Ridutrin (rosuvastatin zinc/ezetimibe) Public Assessment Report Scientific discussion" (PDF). NL/H/3017/001-003/DC.