Amino Acid disorders Flashcards
1
Q
Describe PKU
A
- Deficiency in either Phenylalanine hydroxylase or BH4
- Tyrosine becomes essential AA
- Avoid Phenylalanine
2
Q
Presentation of PKU
A
- Growth retardation
- Intellectual disability
- Seizures
- Fair skin
- Eczema
- Musty body odor
3
Q
Describe Alkaptonuria
A
- Homogentisate oxidase deficiency
- Can’t degrade Tyrosine
- Homogentisic acid builds up in urine and connective tissue and sclera —> Brown
4
Q
Presentation of Alkaptonuria
A
- Dark Brown pigmented Sclera
- Black urine when exposed to air
- Arthralgias
5
Q
Describe Harnup Disease?
A
- Autosomal recessive
- Defect of a transporter in intestine and kidneys for neutral amino acids (tryptophan)
6
Q
Presentation of Hartnup disease
A
- No niacin —> Pellagra (Vit B3 deficiency)
- 3 D’s: Dermatitis, Diarrhea, Dementia
7
Q
Describe Homocystinuria
A
- Intellectual disability
- Tall stature
- Osteoporosis
- Kyphosis
- Atheroscerosis
- Subluxation of Lens (downward dislocation . . . in Marfan it is up)
8
Q
Treatment of Homocystinuria
A
- increase cysteine
- B6 and B12
- Decrease methionine
9
Q
Describe Cystinuria
A
- Defect of the renal Proximal tubular amino acid transporter for COLA: cystine, ornithine, Lysine, Arginine
- Cystine kidney stones
10
Q
What med prevents cystine kidney stones
A
Acetazolamide
11
Q
Describe Maple Syrup urine disease
A
- Urine smells like maple syrup
- Filled w/ BCAAs: Isoleucine, Leucine, Valine
- Deficiency of branched chain alpha-ketoacid dehydrogenase complex
- Intellectual disability
- Severe CNS defects
12
Q
What 5 cofactors are necessary for branched chain alpha-ketoacid dehydrogenase?
A
“TLC For Nobody”
-same as pyruvate dehydrogenase and alpha-ketoglutarate
