Podcast
Questions and Answers
What is the role of the R group in amino acids?
What is the role of the R group in amino acids?
- Initiating the synthesis of proteins
- Acting as a catalyst for protein reactions
- Facilitating the breakdown of proteins
- Determining the chemical properties of the amino acids (correct)
Which enzyme deficiency leads to Phenylketonuria (PKU)?
Which enzyme deficiency leads to Phenylketonuria (PKU)?
- Tyrosine kinase
- Phenylalanine hydroxylase (PAH) (correct)
- Tetrahydrobiopterin (BH4)
- Argininosuccinic aciduria
What is the consequence of inherited enzyme defects in aminoacidopathies?
What is the consequence of inherited enzyme defects in aminoacidopathies?
- Decreased synthesis of proteins
- Enhanced metabolism of certain amino acids
- Increased production of amino acids
- Build-up of toxic amino acids and byproducts in the blood (correct)
What is the genetic inheritance pattern of Phenylketonuria (PKU)?
What is the genetic inheritance pattern of Phenylketonuria (PKU)?
What is the function of the N-terminal end of amino acids?
What is the function of the N-terminal end of amino acids?
Flashcards
Role of the R group?
Role of the R group?
Determines the chemical properties of the amino acid.
Enzyme deficiency in PKU?
Enzyme deficiency in PKU?
Phenylalanine hydroxylase (PAH) deficiency.
Consequence of aminoacidopathies?
Consequence of aminoacidopathies?
Build-up of toxic amino acids and byproducts in the blood.
Inheritance pattern of PKU?
Inheritance pattern of PKU?
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Function of N-terminal end?
Function of N-terminal end?
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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.
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