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Biochem Disorders

FA Review Glycogen and Lysosomal Disorders

QuestionAnswer
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