Tay Sachs Disease Mnemonic – Best Medical Mnemonics

Tay Sachs disease:

Tay-Sachs disease (also known as GM2 gangliosidosis or hexosaminidase A deficiency) is a rare autosomal recessive genetic disorder. In its most common variant (known as infantile Tay Sachs disease), it causes a progressive deterioration of nerve cells and of mental and physical abilities that commences around six months of age and usually results in death by the age of four. The disease occurs when harmful quantities of cell membrane components known as gangliosides accumulate in the brain’s nerve cells, eventually leading to the premature death of the cells. A ganglioside is a form of sphingolipid, which makes Tay Sachs disease a member of the sphingolipidoses. There is no known cure or treatment for Tay Sachs disease.

Tay Sachs Disease Mnemonic

Signs and symptoms:

Tay-Sachs disease is classified into several forms, which are differentiated based on the onset age of neurological symptoms.

Deficient enzyme:

Accumulated substrate:

Mode of inheritance:

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