Metabolic Disorders Flashcards
1
Q
-Autosomall recessive
-deficient in hexoaminidase A
Cherry red spot on macula
lipid droplets in nerves
Fatal in infancy
A
Tay Sachs
2
Q
Autosomal recessive accumulation of mucopolysaccharides in neurons short stature corneal opacities hepatosplenomegally
A
Hurler Syndrome
3
Q
-Autosomal recessive
-Accumulation of glucocerebroside in macrophages
deficient in glucocerebrosidase
-Severe neuron loss
A
Gaucher Disease
4
Q
- Autosomal recessive
- Accumulation of sphingomyelin in neurons
- cherry red spot in macula
A
Niemann Pick Disease
5
Q
Deficient in Phenylalanine hydroxylase
Phenylalanine accumulates
mental retardation, seizures
restrict dietary phenylalanine
A
Phenylketonuria
6
Q
Autosomal Recessive
defective excretion of copper
Kayser Fleischer Ring-golden brown band in cornea
A
Wilsons disease
7
Q
Thiamine Deficiency altered consciousness impaired short term memory nystagmus chronic alcoholics
A
Wernickes Syndrome
8
Q
Low B12
lesions in posterolateral spinal cord
paresthesias in soles, extremities
weakness
A
subacute combined degeneration
