Week 1 Metabolic Diseases- Krafts

Question 1

Tay-Sachs Disease

Answer 1

• Neuronal Storage Disease
• Deficiency of hexosaminidase A
• Accumulation of ganglioside
• Common in Ashkenazi Jews
• “Cherry-red” spot in retina virtually diagnostic
• Death by age 4

Question 2

What are Leukodystrophies

Answer 2

• myelin abnormalities
• affects oligodentrocytes
• autosomal recessive
• Deterioration of primarily MOTOR skills, spasticity, hypotonia, ataxi

Question 3

Krabbe Disease

Answer 3

• Type of leukodystrophy
• thing that accumulates is toxic to oligodendrocyte
• Globoid Cells- fat macrophages
• Loose mylein production
• Conduction not right
• Affects motor, muscle stiffness

Question 4

Wernicke Encephalopathy

Triad?

Answer 4

• B1 (Thiamine) Deficiency
• chronic alcoholism
• Triad: Confuciton, Opthalmoplegia (paralyzed eye muscles), ataxia
• Hemorrhage and necrosis in mammillary bodies= relay station for memory
• Acute, reversible

Question 5

What are neuronal storage diseases?

Answer 5

• autosomal recessive enzyme deficiency
• results in accumulation of enzyme substrate
• Leads to loss of cognitive function, maybe also seizures

Question 6

Neuronal Ceroid Lipofuscinoses

Answer 6

• Deficiency of enzymes involved in protein modification/degradation
• Lipofuscin accumulates within neurons
• Onset age varies
• Blindness, mental and motor deterioration, seizures

Question 7

Korsakoff Syndrome

Answer 7

• B1 (Thiamine) Deficiency
• More severe that wernicke
• Memory disturbances because mammillary bodies atrophy (confabulation)
• Prolonged, irreversible

Question 8

B12 (Cobalamin) Deficinecy

Answer 8

• Need to B12 to make DNA and myelin
• Causes anemia (reversible)
• Degeneration of spinal cord
• Lower extremity numbness, ataxia, weakness
• Reversible until paraplegia
• Swelling of myelin layers
• ASCENDING AND DESCENDING tracts involved

Question 9

Carbon Monoxide

Answer 9

• Injury due to hypoxia
• Symptoms: confusion, disorientation, delirium (all CNS symptoms)
• Pink discoloration of tissues

Question 10

Methanol

Answer 10

• can kill
• preferentially affects retina
• may cause blindness
• commonly used for suicide

Question 11

Ethanol

Answer 11

• Preferentially affects cerebellum
• Truncal ataxia - tends to affect more proximal muscles
• Cerebellar atrophy
• Bergmann gliosis- (proliferation of astrocytes where purkinje cells should be)