Tutorials Flashcards
Which lysosomal storage disease occurs due to an accumulation of spingomyelin?
Niemann-Pick disease
What causes Niemann-Pick disease?
defective or absent spingomyelinase
What are symptoms of Niemann-Pick disease?
mental retardation, clumsy, dystonia, sleep disturbances
How can we treat Niemann-Pick disease?
no effective therapy available
Which lysosomal storage disease occurs due to an accumulation of partially digested ganglioside?
Tay-Sachs disease
What causes Tay-Sachs disease?
defect in lysosomal enzyme that degrades sphingolipids
What are symptoms of Tay-Sachs disease?
visual difficulty that can progress to neurologic diseases
How can we treat Tay-Sachs disease?
no effective therapy (BBB blocks enzyme)
Which lysosomal storage disease occurs due to an accumulation of glycogen particles in lysosomes?
Pompe disease
What causes Pompe disease?
defect in the degradation of glycogen
What are some symptoms of Pompe disease?
infant: metal retardation, cardiomegaly
adult: gradual skeletal myopathy
How can we treat Pompe disease?
enzyme replacement therapy
Which lysosomal storage disease occurs due to an accumulation of indigestible material in lysosomes?
I-cell disease (mucolipidosis)
What causes I-cell disease?
a deficiency of the phosphotransferase which helps to tag specific proteins to be eaten by lysosomes
What are some symptoms of I-cell disease?
psychomotor retardation
How can we treat I-cell disease?
no known cure (bone marrow transplant to support)
What abnormal hemoglobin causes sickle cell disease?
hemoglobin S (HbS)
How long do sickle cells last?
10-20 days
On what gene is there a mutation, causing sickle cell disease?
HBB gene (hemoglobin beta)
What do sickle cells cause in the blood?
blocks blood flow (ischemia) or contains low levels of oxygen (hypoxia)
What is the increased red cell destruction in the spleen and an inability of the liver to conjugate all of the bilirubin?
cholecystitis (leading to jaundice)
When do we use penicillin treatment?
to anyone who has had a surgical removal of the spleen or past infection with pneumonia
What treatment increases hemoglobin F (provides protection from hemoglobin S)?
hydroxyurea
What causes Ehler’s Danlos syndrome?
mutations in genes of COLLAGEN 5
