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
What vitamin deficiency is often associated with alcohol abuse?
B1 (thiamine)
Thiamine deficiency causes both…
Wernicke encephalopathy and Korsakoff syndrome
Wernicke Encephelopathy is characterized by the degeneration of what brain structure?
mammilary bodies and walls of 3rd and 4th ventricles
Wernicke encephalopathy is characterized by…
Confusion, ataxia, ophthalmoplegia
Of Wernicke encephalopathy and Karsakoff syndrome, which is reversible?
Wern Enceph
Korsakoff syndrome is characterized by…
Memory disturbances and confabulation
Korsakoff syndrome can be characterized by what histological/gross defects in the brain?
Cystic spaces, hemosiderin-laden macrophages in mammillary bodies, ventricle walls, as well as thalmic lesions
Vitamin B12 deficiency can result in…
Anemia and spinal cord subacute degeneration
Spinal cord degeneration due to B12 deficiency can manifest in what way?
Lower extremity numbness, weakness, ataxia
