Gangliosidosis

Gangliosidoses are lipid storage diseases caused by the accumulation of sugary lipids, the gangliosides . A distinction is made between GM ₁ , GM ₂ and GM ₃ gangliosidosis.

GM ₁ gangliosidoses

Classification according to ICD-10
E75.1	Other gangliosidoses, including GM 1 gangliosidosis
ICD-10 online (WHO version 2019)

The GM ₁ gangliosidoses are caused by a defect in the enzyme β-galactosidase . This leads to an abnormal storage of sugar-containing lipids, the GM ₁ - ganglioside , in cells of the peripheral and central nervous system. The GM ₁ gangliosidoses occur in three forms:

Infantile GM ₁

Synonym: Norman Landing Syndrome

Onset in newborns. Poor drinking, insufficient weight gain, appear apathetic. In the 1st year of life, hepatosplenomegaly, skeletal changes, generalized seizures, tetraspasticity.

Juvenile GM ₁

Synonym: Derry syndrome

Beginning in the 2nd and 3rd year of life. Hypotension and ataxia. Convulsions, mental retardation, tetraspasticity. They usually die before the age of 10 from severe respiratory infections. Miglustat could have a positive effect on the course of the disease.

Adult GM ₁

Start between the ages of 3 and 30. Only individual reports are available. Dysarthria, gait disorders, dystonia.

GM ₂ gangliosidoses

Classification according to ICD-10
E75.0	GM 2 gangliosidosis
ICD-10 online (WHO version 2019)

The GM ₂ -Gangliosidosen are a group of lysosomal storage diseases in which sugar-containing lipids that GM ₂ - gangliosides , are deposited. There is an infantile (“child”) and a juvenile / adult (“adolescent / adult”) form of GM ₂ gangliosidosis. These can appear as different variants:

• GM ₂ gangliosidosis variant B ( Tay-Sachs disease ), a defect in the enzyme hexosaminidase A
• GM ₂ gangliosidosis variant 0 ( Sandhoff's disease ), a defect in the enzymes hexosaminidase A and hexosaminidase B

The two genetic defects cannot be differentiated based on the symptoms alone.

literature

• M. Beck. Lysosomal storage diseases. Monthly for Pediatrics, Volume 155, Issue 7, July 2007
• M. Beck: GM ₁ -Gangliosidosis and Galactosialidosis . In Georg Friedrich Hoffmann (Hrsg.): Metabolic diseases in neurology . Georg Thieme Verlag 2004, ISBN 978-3-13-136321-3 , pp. 54–57 ( limited online version (Google Books) )

Individual evidence

1. ↑ gangliosidosis. In: Orphanet (Rare Disease Database).
2. ↑ Right diagnosis
3. ↑ gangliosidosis. In: Orphanet (Rare Disease Database).