5 Questions
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
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?
Phenylalanine hydroxylase
What is the characteristic LDL-R activity in individuals with heterozygous familial hypercholesterolemia?
2-25%
In addition to impaired CNS development and intellectual disabilities, what other outcome is associated with untreated phenylketonuria?
Developmental delay
What is the consequence of homozygous familial hypercholesterolemia in individuals?
Atherosclerosis in childhood
Test your knowledge of familial hypercholesterolemia (FH) with this quiz. Discover the genetic and biochemical aspects of this condition, its impact on cholesterol levels, and the associated cardiovascular diseases.
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