Reading...
Play button
Play button
Use LEFT and RIGHT arrow keys to navigate between flashcards;
Use UP and DOWN arrow keys to flip the card;
H to show hint;
A reads text to speech;
5 Cards in this Set
- Front
- Back
- 3rd side (hint)
|
What is the enzymatic defect of phenylketonuria?
|
Phenylalanine hydroxylase deficiency (cannot convert phenylalanine to tyrosine)
|
|
|
|
How is molecular oxygen converted to water in the conversion of phenylalanine to tyrosine?
|
The other oxygen atom is reduced by BH4 (tetrahydrobiopterin or THBPT)
|
|
|
|
Name two other uses for BH4 outside of Phe --> Tyr conversion.
|
Converstion of Tryptophan to SEROTONIN. BH4 is needed for tryptophan hydroxylase.
Conversion of tyrosine to di-oh-phenylalanine (precursor for DOPAMINE, which is precursor for norepinephrine) tyr --> di-oh-phe --> dopamine --> norepi --> epi SEROTONIN AND DOPAMINE |
neurotransmitters
|
|
|
What is the enzymatic defect in Maple Syrup Urine Disease?
|
Increased levels of BCAA (branched chain aa's) and BCKA (branched chain alpha-keto-acids) in body cells/fluids, due to defects in mitochondrial enzyme complex, branched ketoacid dehydrogenase (BCKADH)
|
|
|
|
What is the GENETIC defect in Maple Syrup Urine Disease?
|
Antigenic absence of E2 or E1B (??)
|
|
