Chapter 16: Lipid Mobilization and Catabolism (continued) Flashcards
What is the only X-linked recessive sphingolipidosis?
Fabry disease
What is the pathology of Fabry disease?
caused by a mutation in the gene that encodes the lysosomal enzyme alpha galactosidase
What product accumulates in the lysosomes of those with Fabry disease?
ceramide trihexoside
(globotriaosylceramide)
What are some symptoms in someone who has Fabry disease?
- Burning sensations in the hands which gets worse with exercise and hot weather
- small raised reddish-purple blemishes on the skin (angiokeratomas)
- eye manifestations, especially cloudiness of the cornea
- increased risk of cardiovascular disease, stroke
- renal failure is often the cause of death
How to treat Fabry disease?
enzyme replacement therapy is available
Draw out the pathway of Sphingolipid catabolism and possible errors in each step.
What is mucopolysaccharidoses?
occur when the body lacks enzymes that break down complex sugar molecules, called glycosaminoglycans (GAGs)
Enzymes are found in lysosomes
2 major type of mucopolysacchardoses discussed in this chapter?
- Hunter Syndrome
- Hurler Syndrome
Hunter Syndrome Deficiency
iduronate sulfatase deficiency
Hunter Syndrome clinical features.
- NO corneal clouding
- aggressive behavior
Hurler Syndrome deficiency?
Alpha- L Iduronidase deficiency
Hurler Syndrome clinical symptoms.
- hepatosplenomegaly
- developmental delay
- gargoylism
- corneal clouding
- airway obstruction
Which mucopolysaccharidosis is X-linked recessive ?
Hunter Syndrome
What is the substrate that accumulates in Hunter syndrome?
- increased heparan sulfate
- increased dermatan sulfate
What is the substrate that accumulates in Hurler syndrome?
- increased heparan sulfate
- increased dermatan sulfate
