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Biochem Disorders
FA Review Glycogen and Lysosomal Disorders
| Question | Answer |
|---|---|
| What kind of stain is used for identifying Glycogen? | Periodic acid-Schiff stain |
| What kind of inheritance are glycogen storage diseases I-IV? | Autosomal Recessive |
| What is the enzyme deficient in Von Gierke disease? | Glucose-6-phosphatase |
| What is the name of type I Glycogen Storage disease? | Von Gierke disease |
| What are the clinical findings of Von Gierke disease? | 1. Severe fasting hypoglycemia 2. Markedly increased Glycogen in liver 3. Increased blood lactate 4. Increased triglycerides 5. Increased Uric acid (Gout) 6. Hepatomegaly |
| What sugars are avoided in Von Gierke disease? | Fructose and Galactose |
| Which metabolic processes are affected in Von Gierke disease? | Gluconeogenesis and Glycogenolysis |
| Which Glycogen storage disease is associated with development of Gout? | Von Gierke disease |
| What is the name given to type II Glycogen storage disease? | Pompe disease |
| What are the main clinical findings? | 1. Cardiomegaly 2. Hypertrophic cardiomyopathy 3. Exercise intolerance 4. Early death |
| What is the deficient enzyme in Pompe disease? | Lysosomal alpha-1, 4-glucosidase with alpha-1, 6-glucosidase activity (acid maltase) |
| Acid maltase is associated with with Glycogen storage disease? | Pompe disease |
| What are the most common tissues or organs affected in Pompe disease? | Heart, liver, and muscle. |
| What is a milder form of Von Gierke disease? | Cori disease (type III) |
| What is the main lab difference between Von Gierke disease and Cori disease? | Cori disease has normal blood lactate levels |
| Which metabolic process in intact in Cori disease? | Gluconeogenesis |
| What is the defective enzyme in Cori disease? | Debranching enzyme (a-1, 6-glucosidase) |
| What is accumulated in the cytosol in Cori disease? | Limit dextrin-like structures in the cytosol |
| How is type IV Glycogen storage disease known as? | McArdle disease |
| Which disorder is seen with increased glycogen in muscle, but it is unable to be broken down due to defective enzyme? | McArdle disease |
| What Glycogen storage disease is associated with painful muscle cramps? | McArdle disease |
| What are the main clinical abnormalities in McArdle Disease? | 1. Painful Muscle cramps 2. Myoglobinuria (red urine) with extraneous exercise 3. Exercise intolerance (especially in adolescents) 4. Arrhythmia form electrolyte imbalance |
| Second-wind phenomenon is associated with which glycogen storage disorder? | McArdle disease |
| What enzyme is deficient in McArdle disease? | Skeletal muscle glycogen phosphorylase |
| What is another referred name for Skeletal muscle glycogen phosphorylase? | Myophosphorylase |
| Deficient in myophosphorylase leads to the development of _________________ disease, type _____ glycogen storage disease. | McArdle; IV |
| Normal blood levels of glucose, are normally seen in which Glycogen storage disease? | McArdle Disease |
| What are the two main categories of Lysosomal storage diseases? | 1. Sphingolipidoses 2. Mucopolysaccharidoses |
| What are the most common Sphingolipidoses? | 1. Fabry disease 2. Gaucher disease 3. Niemann-Pick disease 4. Tay-Sachs disease 5. Krabbe disease 6. Metachromatic leukodystrophy |
| What the 2 most common Mucopolysaccharidoses? | 1. Hurler syndrome 2. Hunter syndrome |
| What is the enzyme is deficient in Fabry disease? | alpha-galactosidase A |
| Deficiency in a-galactosidase A ----> | Fabry disease |
| What is the mode of inheritance of Fabry disease? | X-linked recessive |
| What is the most common Lysosomal storage disease? | Gaucher disease |
| What enzyme is defective in Gaucher disease? | Glucocerebrosidase |
| What is the early-stage triad of symptoms of Fabry disease? | 1. Peripheral neuropathy 2. Angiokeratomas 3. Hypohidrosis |
| What are the late symptoms in Fabry disease? | Progressive renal failure and Cardiovascular disease |
| What are Gaucher cells? | Lipid-laden macrophages resembling crumpled tissue paper |
| Lipid-laden macrophages | Gaucher cells and Foam cells |
| What are some common clinical findings of Gaucher disease? | Hepatosplenomegaly, Pancytopenia, Osteoporosis, Aseptic necrosis of Femur, bone crises, and Gaucher cells. |
| Hepatosplenomegaly + Bone pain + pathological fracture , are common symptoms of __________________ disease. | Gaucher |
| What is the inheritance pattern of Gaucher disease? | Autosomal recessive |
| Hepatosplenomegaly + "Cherry-red" spot on macula. Dx? | Niemann-Pick disease |
| What is the deficient enzyme of Niemann-Pick disease? | Sphingomyelinase |
| What are the main clinical findings of Niemann-Pick disease? | 1. Progressive neurodegeneration 2. Hepatosplenomegaly 3. Foam cells 4. "Cherry-red" spot on macula |
| What is the main difference between Niemann-Pick disease and Tay-Sachs disease? | Tay-Sachs has NO hepatosplenomegaly |
| No hepatosplenomegaly + "cherry-red" spot in macula + developmental delay. Dx? | Tay-Sachs disease |
| Deficient Hexosaminidase A leads to the development of? | Tay-Sachs disease |
| What substrate is accumulated in Tay-Sachs disease? | GM2 ganglioside |
| Increased levels of GM2 ganglioside. Dx? | Tay-Sachs disease |
| Lysosomes with "onion skin" is classically seen in: | Tay-Sachs disease |
| Which two Lysosomal storage diseases are seen with "cherry-red" spot on macula, upon examination? | Tay-Sachs disease and Niemann-Pick disease |
| Which Sphingolipidoses disease is characterized by: Central and Peripheral demyelination with ataxia and dementia? | Metachromatic Leukodystrophy |
| Metachromatic leukodystrophy is due to deficient to? | Arylsulfatase A |
| Deficiency in Galactocerebrosidase ----> | Krabbe disease |
| What are the clinically findings of Krabbe disease? | Peripheral neuropathy, developmental delay, optic atrophy, and globoid cells. |
| Globoid cell is associated with ____________________ disease. | Krabbe |
| Accumulated Galactocerebroside and psychosine | Krabbe disease |
| All Sphingolipidoses are Autosomal recessive inheritance except for ______________. | Fabry disease |
| Mild Hurler + aggressive behavior, no corneal clouding. Dx? | Hunter syndrome |
| Hunter syndrome is due to deficiency in ____________________________. | Iduronate sulfatase |
| What is accumulated in both Mucopolysaccharidoses? | Heparan sulfate, dermatan sulfatase |
| Gargoylism + airway obstruction + corneal clouding. Dx? | Hurler syndrome |
| Hepatosplenomegaly is seen in which Lysosomal storage diseases? | Gaucher, Niemann-Pick, Hurler, and Hunter syndrome. |
| What is the deficient enzyme of Hurler syndrome? | a-L-iduronidase |
| Which are the 2 X-linked recessive lysosomal storage diseases? | Hunter syndrome and Fabry disease |
Created by:
rakomi
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