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Questions and Answers
Which condition is characterized by high cholesterol levels, especially high LDL-cholesterol, and can lead to cardiovascular diseases such as atherosclerosis and coronary artery disease?
Which condition is characterized by high cholesterol levels, especially high LDL-cholesterol, and can lead to cardiovascular diseases such as atherosclerosis and coronary artery disease?
- Familial hypercholesterolemia (correct)
- Hyperlipidemia type I
- Coronary cholesterol disorder
- Atherosclerosis syndrome
Which enzyme deficiency leads to high phenylalanine concentrations in blood, causing the conversion of amino acids into phenylketones, resulting in impaired CNS development and intellectual disabilities?
Which enzyme deficiency leads to high phenylalanine concentrations in blood, causing the conversion of amino acids into phenylketones, resulting in impaired CNS development and intellectual disabilities?
- Catecholamine kinase
- Tyrosine synthase
- Phenylalanine hydroxylase (correct)
- Phenylketonuria reductase
What is the characteristic LDL-R activity in individuals with heterozygous familial hypercholesterolemia?
What is the characteristic LDL-R activity in individuals with heterozygous familial hypercholesterolemia?
- 100%
- 50-75%
- 2-25% (correct)
- 0%
In addition to impaired CNS development and intellectual disabilities, what other outcome is associated with untreated phenylketonuria?
In addition to impaired CNS development and intellectual disabilities, what other outcome is associated with untreated phenylketonuria?
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What is the consequence of homozygous familial hypercholesterolemia in individuals?
What is the consequence of homozygous familial hypercholesterolemia in individuals?
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