Sandhoff disease

Sandhoff disease

An autosomal inherited disease caused by deficiency of the enzymes hexosaminidase A & B (see beta-N-acetylhexosaminidase) which leads to an accumulation of GM2 ganglioside and the sphingolipid globoside in neurons and other organs. Clinical manifestations resemble Tay-Sachs disease, but the disease is not limited to Askenazi Jews and may feature hepatosplenomegaly. The infantile form presents in the first 4 months of life with psychomotor delay, hypotonia followed by spasticity, and cherry red spots in the macula. Rare juvenile and adult forms have been reported.

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Sandhoff's disease

Medical; Health care; Medicine

An autosomal recessive neurodegenerative disorder characterized by an accumulation of G(M2) ganglioside in neurons and other tissues. It is caused by mutation in the common beta ...

Sandhoffs disease

Medical; Health care; Medicine

An autosomal recessive neurodegenerative disorder characterized by an accumulation of G(M2) ganglioside in neurons and other tissues. It is caused by mutation in the common beta ...

disease

Natural environment; Coral reefs

Any impairment of an organism's vital functions or systems, including interruption, cessation, proliferation, or other malfunction.

indications

Biotechnology; Health care; Life Sciences; Medical; Diseases; Hospitals; Diseases; Herbal medicine

In medicine, an indication is a valid reason to use a certain test, medication, procedure, or surgery. The opposite of indication is contraindication.

contraindications

Biotechnology; Health care; Life Sciences; Medical; Diseases; Hospitals; Diseases; Herbal medicine

A contraindication (pronounced as contra-indication) is a condition or factor that speaks against a certain measure. It is mostly used in medicine, with regard to factors that ...

complications

Biotechnology; Health care; Life Sciences; Medical; Biomedical; Diseases; Hospitals; Diseases

Complication, in medicine, is an unfavorable evolution of a disease, a health condition or a medical treatment. The disease can become worse in its severity or show a higher ...