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What word describes the phenomenon of a single gene having more than one effect on an individual\\\'s phenotype?
Pleiotropy
\\\"A patient has inherited a mutation in a tumor suppressor gene. Mutation of the remaining (previously normal) copy of the tumor suppressor gene represents a loss of _____
which may lead to the development of cancer.\\\"
A genetic disease that shows _____ _____ will have mutations at different loci that produce the same phenotype.
Locus heterogeneity
\\\"What term describes the presence of both normal and mutated mitochondrial DNA (mtDNA)
resulting in variable expression in mitochondrial inherited diseases?\\\"
Name the genetic phenomenon that occurs when the offspring receives 2 copies of a chromosome from 1 parent and no copies from the other parent.
Uniparental disomy
\\\"In Leber\\\'s hereditary optic neuropathy
vision loss is _____ (central/peripheral).\\\"
What is the pattern of inheritance of hypophosphatemic rickets?
X-linked dominant
Autosomal-recessive patterns of inheritance are often found in diseases caused by defects in _____.
Enzymes
Autosomal-dominant patterns of inheritance are often found in diseases caused by defects in _____ genes.
Structural
\\\"Fatty acid oxidation occurs in the _____ (mitochondria/cytoplasm)
whereas fatty acid synthesis occurs in the _____ (mitochondria/cytoplasm).\\\"
Name the three pathways that occur in both the cytoplasm and the mitochondria.
\\\"Heme synthesis
Four pathways that occur in the mitochondria
\\\"Fatty acid oxidation
What is the rate-determining enzyme of de novo pyrimidine synthesis?
Carbomyl phosphate synthetase II
What is the rate-determining enzyme of de novo purine synthesis?
Glutamine-PRPP amidotransferase
What is the rate-determining enzyme of glycolysis?
PFK-1
What is the rate-determining enzyme of gluconeogenesis?
\\\"Fructose-1
What is the rate-determining enzyme of the TCA cycle?
Isocitrate dehydrogenase
What is the rate-determining enzyme of glycogen synthesis?
Glycogen synthase
What is the rate-determining enzyme of glycogenolysis?
Glycogen phosphorylase
What is the rate-determining enzyme of the HMP shunt?
G6PD
What is the rate-determining enzyme of fatty acid synthesis?
Acetyl-CoA carboxylase
What is the rate-determining enzyme of fatty acid oxidation?
Carnitine acetyltransferase I
What is the rate-determining enzyme of ketogenesis?
HMG-CoA synthase
What is the rate-determining enzyme of cholesterol synthesis?
HMG-CoA reductase
What is the rate-determining enzyme of the urea cycle?
Carbamoyl phosphate synthetase
How many ATP molecules are produced from the aerobic metabolism of glucose via the malate-aspartate shuttle?
32; occurs in the heart and liver
How many ATP molecules are produced from the aerobic metabolism of glucose via the glyceraldehyde-3-phosphate shuttle?
30; this occurs in the muscle
What compounds are used as single-carbon donors in various reactions?
Tetrahydrofolates (THFs)
What vitamin is the donor of the carboxyl group used in many biochemical reactions in the body?
Biotin
What molecule donates methyl groups?
S-adenosylmethionine (SAM)
What enzyme deficiency is seen in Fabry\\\'s disease?
α-Galactosidase A
\\\"A patient presents with progressive neurodegeneration
hepatosplenomegaly
\\\"A patient presents with peripheral neuropathy
developmental delay
A deficiency of the enzyme α-galactosidase A leads to what disease?
Fabry\\\'s disease
What substrate is accumulated in Fabry\\\'s disease?
Ceramide trihexose
\\\"A patient shows mild symptoms similar to Hurler\\\'s syndrome
but no corneal clouding; what kind of behavior patterns do you expect?\\\"
What type of inheritance does Fabry\\\'s disease demonstrate?
X-linked recessive
\\\"A patient has peripheral neuropathy of the hands and feet
angiokeratomas of the skin
Name six types of sphingolipidosis.
\\\"Fabry\\\'s disease
What enzyme deficiency leads to Gaucher\\\'s disease?
β-Glucocerebrosidase
What is the most common lysosomal storage disease?
Gaucher\\\'s disease
What three lysosomal storage disorders are Ashkenazi Jews at increased risk for?
\\\"Tay-Sachs
\\\"A patient has hepatosplenomegaly
aseptic necrosis of the femur
What enzyme deficiency leads to Niemann-Pick disease?
Sphingomyelinase
\\\"A child has progressive neurodegeneration
hepatosplenomegaly
What substrate is accumulated in Tay-Sachs disease?
GM2 ganglioside
\\\"A child has progressive neurodegeneration
developmental delay
Name two lysosomal storage diseases that may present with a cherry-red spot on the macula.
Niemann-Pick disease and Tay-Sachs disease
What enzyme deficiency leads to Krabbe\\\'s disease?
Galactocerebrosidase
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