5 Questions
What is the role of the R group in amino acids?
Determining the chemical properties of the amino acids
Which enzyme deficiency leads to Phenylketonuria (PKU)?
Phenylalanine hydroxylase (PAH)
What is the consequence of inherited enzyme defects in aminoacidopathies?
Build-up of toxic amino acids and byproducts in the blood
What is the genetic inheritance pattern of Phenylketonuria (PKU)?
Autosomal recessive
What is the function of the N-terminal end of amino acids?
Containing the amino group
Study Notes
Amino Acids
- The R group (side chain) is a unique group of atoms that distinguishes each amino acid from another.
Amino Acid Disorders
- A deficiency of the enzyme phenylalanine hydroxylase leads to Phenylketonuria (PKU).
- Inherited enzyme defects in aminoacidopathies result in the accumulation of toxic compounds, which can cause intellectual disability, seizures, and other severe health problems.
- In PKU, the body is unable to break down the amino acid phenylalanine, leading to its accumulation and subsequent damage to brain tissue.
Genetic Inheritance of PKU
- PKU is inherited in an autosomal recessive pattern, meaning that a child needs to inherit two copies of the defective gene (one from each parent) to develop the condition.
Amino Acid Structure
- The N-terminal end of amino acids is the end that contains a free amino group (-NH2), which plays a crucial role in protein synthesis.
Test your knowledge of amino acids with this quiz! Identify the chemical properties and structures of amino acids, including the N-terminal and C-terminal ends, as well as the diverse R groups. Challenge yourself to understand the role of amino acids in protein biologic activity.
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