Which disorder is characterized by progressive lipid accumulation in infants?

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Tay-Sachs Disease is a genetic disorder characterized by the progressive accumulation of lipids, specifically GM2 gangliosides, in the nervous system due to a deficiency of the enzyme hexosaminidase A. This enzyme's deficiency leads to the inability to properly break down certain fats, resulting in their buildup in nerve cells, which ultimately causes their damage and leads to severe neurological impairment.

Infants with Tay-Sachs often appear normal at birth but start to exhibit developmental delays and neurological problems around six months of age. Symptoms include loss of motor skills, increased startle response, and eventually, paralysis and severe cognitive decline. This condition is most prevalent in individuals of Ashkenazi Jewish descent, but it can affect others as well.

Understanding the nature of lipid accumulation in Tay-Sachs helps clarify the disease's impact on neurodevelopment, differentiating it from other disorders that may involve neurological symptoms but do not specifically involve lipid storage disorders. For instance, Pick's Disease is a form of frontotemporal dementia, while leukoencephalopathies refer to a group of disorders affecting the white matter of the brain and Moyamoya Disease is a cerebrovascular disorder causing stenosis of brain arteries. These conditions do not share the characteristic of progressive lipid accumulation

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