Flashcards in Lysosomal Storage Disorders Deck (52):
What is the deficient enzyme in Hurler Syndrome?
Which substrates accumulate in Hurler Syndrome?
What diagnostic method do you use for Hurler Syndrome?
In Hurler Syndrome, what can be found in the urine?
What is the deficiency enzyme in Hunter Syndrome?
Which is milder, Hunter or Hurler syndrome?
What is one distinguishing characteristic between patients with Hunter syndrome and Hurler syndrome?
Hunter Syndrome = NO corneal clouding
What are some features of patients with Hurler syndrome?
Course facial features
restricted joint mobility
What are some features of patients with Hunter Syndrome?
Course facial features
mild to moderate mental retardation
What are sphingolipids?
group of complex lipids containing sphingosine as alcohol
What makes up ceramide?
Sphingosine + fatty acid = ceramide
What are the two classes of Sphingolipids?
What do glycosphingolipids contain?
A carbohydrate moiety linked to ceramide
What do Sphingophospholipids contain?
Phosphoryl choline moiety linked to ceramide
What is the deficient enzyme in Tay-Sachs disease?
What is the accumulating substrate in Tay-Sachs?
Ganglioside is also known as what?
What are the distinguishing features of Tay Sachs?
-Cherry-red spot on macula
-Onion-shell inclusions in lysosomes
-Progressive neurodegeneration after 3-6 months
-Developmental milestone delay
-Death by 2-6 yr/old
How can carriers of Tay Sachs be detected?
Hunter's syndrome is genetically categorized as?
Which is the most common lysosomal storage disorder?
What is the deficient enzyme in Gaucher disease?
What is the accumulating substrate in Gaucher disease?
Glucosyl Ceramide is also known as what?
What happens to macrophages in Guacher disease?
become engorged with glucocerebrosides
What describes the appearance of the cytoplasm of the Gaucher cells in Gaucher disease?
Crumpled tissue paper
Genetically, what sort of disorder is Fabry's disease?
What is the deficient enzyme in Fabry's disease?
What substate accumulates in Fabry's disease?
What is another name for Globoside/
How is Fabry disease manifested?
-Skin rash "bathing-trunk distribution"
What is the deficient enzyme in Niemann-Pick disease?
What is the substrate that accumulates in Niemann-Pick disease?
What is spingomyelin?
In niemann-pick disease, where does sphingomyelin accumulate?
What is the difference between Niemann Pick type A and type B?
Type A- severe infantile form = death by 2-3 yr/old
Type B: appears later in childhood; hepatosplenomegaly
In Niemann-Pick disease, cells containing sphingomyelin have a ________ appearance.
Which lysosomal storage diseases present with cherry-red spots on the macula?
What is the deficiency enzyme in Metachromatic Leukodystrophy?
Aryl Sulfatase A
What is the accumulating substrate in metachromatic leukodystrophy?
In metachromatic leukodystrophy, sulfatide cannot be broken down into what?
In Fabry disease, Globoside cannot be broken down into what?
In Tay-Sachs disease, Ganglioside (Gm2) cannot be broken down into what?
In Gaucher disease, Glucosyl ceremide cannot be broken down into what?
In Niemann-Pick disease, Sphingomyelin cannot be broken down into what?
In Pompe disease, a small amount of cellular glycogen is degraded by what enzyme?
Lysosomal acid maltase
Lysosomal acid maltase (Pompe disease) is also known as what?
What parts of the body do glycogen accumulate in Pompe disease?
What type of glycogen disorder is Pompe disease?
Glycogen storage disorder type II
In I-cell disease, what does the golgi fail to do?
Phosphorylate mannose to form mannose-6-phosphate
In I-cell disease, what accumulates in the lysosomes?
Glycosaminoglycans and sphingolipids