GM1 gangliosidoses


The GM1 gangliosidoses are caused by a deficiency of beta-galactosidase, with resulting abnormal storage of acidic lipid materials in cells of the central and peripheral nervous systems, but particularly in the nerve cells.

Cause

GM1 Gangliosidoses are inherited, autosomal recessive sphingolipidoses, resulting from marked deficiency of Acid Beta Galactosidase.

Diagnosis

Types

GM1 has three forms: early infantile, late infantile, and adult.

Early infantile GM1

Symptoms of early infantile GM1 may include neurodegeneration, seizures, liver enlargement, spleen enlargement, 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.
Onset of late infantile GM1 is typically between ages 1 and 3 years.
Neurological symptoms include ataxia, seizures, dementia, and difficulties with speech.

Adult GM1

Onset of adult GM1 is between ages 3 and 30.
Symptoms include muscle atrophy, neurological complications that are less severe and progress at a slower rate than in other forms of the disorder, corneal clouding in some patients, and dystonia. Angiokeratomas may develop on the lower part of the trunk of the body. Most patients have a normal size liver and spleen.
Prenatal diagnosis is possible by measurement of Acid Beta Galactosidase in cultured amniotic cells.

Treatment