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Storage Diseases
Vitamins
Grab Bag
Carbohydrate Metabolism
Genetics
100
Characterized by progressive neurodegeneration, developmental delay, cherry-red spot on macula, lysosomes with onion skin.
What is Tay-Sachs disease.
100
Deficiency of this vitamin leads to pellagra
What is vitamin B3 (niacin)
100
Familial hyperlipidemia (IIa) causes an increase in this type of lipoprotein.
What is LDL
100
The rate limiting enzyme of glycolysis
What is hexokinase (or glucokinase)
100
Autosomal dominant disease Findings: depression, progressive dementia, choreiform movements, caudate atrophy, decreased levels of GABA and ACh in the brain. Trinucleotide repeat disorder.
What is Huntington's Disease.
200
Characterized by hepatosplenomegaly, aseptic necrosis of femur, and macrophages that look like crumpled tissue paper
What is Gaucher's disease
200
Patients suffering from Beri-Beri or Werniche-Korsakoff suffer from a lack of this active form of a vitamin.
What is Thiamine Pyrophosphate (TPP)
200
The rate limiting step of cholesterol synthesis is catalyzed by this enzyme
What is HMG-CoA reductase
200
Symptoms of this deficiency includ bloating, cramping, and osmotic diarrhea.
What is lactase deficiency
200
Lesch-Nyhan syndrome, Hunter's syndrome, and Duchenne's muscular dystrophy are examples of this type of genetic disorder.
What are X-linked recessive disorders
300
Glycogen storage disease characterized by cardiomegaly and systemic findings leading to early death.
What is Pompe's Disease
300
Deficiency of this mineral leads to delayed wound healing, hypogonadism, and loss of adult (axillary, facial, pubic) hair. May predispose to alcoholic cirrhosis.
What is Zinc
300
A congenital deficiency of tyrosinase or defective tyrosine transporters leads to this condition. Can also result from a lack of migration of neural crest cells.
What is albinism
300
Autosomal Recessive disease in which the accumulation of toxic substances causes tissue damage. Symptoms: failure to thrive, jaundice, hepatomegaly, infantile cataracts, mental retardation.
What is classic galactosemia (absence of galactose-1-phosphate uridyltransferase)
300
A congenital microdeletion of the short arm of chromosome 5. Findings: microcephaly, moderate to severe mental retardation, high-pitched crying, epicanthal folds, cardiac abnormalities.
What is Cri-du-chat syndrome
400
This enzyme is deficient in Von Gierke's disease (severe fasting hypoglycemia, very highly increased glycogen in liver, high blood lactate, hepatomegaly)
What is Glucose-6-Phosphatase
400
Cobalamin is absorbed in this part of the small intestine.
What is the ileum
400
The cori cycle allows this molecule to be transfered from muscle to the liver for conversion to glucose to resupply muscle.
What is lactate.
400
Odd-chain fatty acids may be converted into this TCA cycle intermediate.
What is Succinyl CoA
400
Autosomal Dominant disease caused by a mutation in the fibrillin gene.
What is Marfan's Syndrome.
500
A lack of alpha-L-iduronidase causes an accumulation of heparan sulfate and dermatan sulfate in this mucopolysaccharidose.
What is Hurler's syndrome
500
Energy malnutrition resulting in tissue and muscle wasting, loss of subcutaneous fat, and variable edema.
What is Marasmus
500
Ammonium, carbon dioxide, and aspartate are the precursors to this molecule
What is Urea
500
This electron transport chain complex transports Hydrogen ion from the intermembraous space into the mitochondrial matrix
What is complex V
500
Autosomal recessive disease. Causes male infertility, fat-soluble vitamin deficiencies, failure to thrive in infancy. Most common lethal genetic disease of caucasians.
What is Cystic Fibrosis