Alcaptonuria Flashcards
1
Q
Symptoms
A
- Urine turns black on standing
- Black pigmentation in connective tissue
- Arthritis, kidney stones, and heart valve defects developing later in life
2
Q
Frequency
A
1 in 200,000 newborns
3
Q
What is Alcaptonura due to?
A
An inability to convert homogentisate acid to 4-maleylacetoacetate
4
Q
Where are the defects at?
A
HGD, also called homogentisate oxidase
5
Q
What is Alcaptonura a result of?
A
Build up homogentisate and BQA in bodily fluids
6
Q
What is polymerized to make dark pigments?
A
BQA
7
Q
Treatment
A
- Reduction of dietary aromatic amino acid intake
- Ascorbic Acid (Vitamin C) intake
- Administration of NTBC
8
Q
What does Ascorbic Acid inhibit?
A
Homogentistic Acid
