Metabolic Diseases Flashcards
What accumulates in neurons in neuronal ceroid lipofuscinoses?
Lipofuscin.
What enzyme is deficient in Neuronal Ceroid Lipofuscinoses?
Not sure, but has to do with protein modification/degradation.
What is the result of lipofuscin buildup?
Blindness, mental and motor degeneration, seizures
What age does neuronal ceroid lipofuscinosis onset?
childhood to adulthood
What enzyme is deficient in Taye-Sachs disease?
Hexosaminadase
The enzyme deficiency in Taye Sachs results in…
a buildup of ganglioside in the lysosomes, so eventually it kills the neurons.
When is TSD detected?
Very early in life, die very early, too
What is the progression of the disease?
Developmental delay, paralysis, loss of neurologic function
What anatomical observation can be made in a patient with TSD?
cherry red spot in retina
Leukodystrophies take place where?
In white matter. Myelin is affected
Krabbe disease is a deficiency in what enzyme?
Galactosylceramidase
Krabbe disease results in a buildup of…
which is toxic because…
galactocerebroside
It’s not that which is toxic, its the natural byproduct
Krabbe disease results in the gross loss of…
myelin in the peripheral nerves
What cells in the brain are indicative of Krabbe disease?
Globoid cells (fat macrophages)
What is the age of onset and disease progression for krabbe disease?
3-6 months, rapidly progressive muscle stiffness and weakness
