Flashcards in Amino Acid Disorders Deck (15):
What is a weird thing that patients with PKU have to stay away from?
aspartame, artificial sweetener
What are the symptoms of PKU?
musty body odor
What are the findings in the baby of a mom w/ PKU who doesn't manage her diet during pregnancy?
congenital heart defects
HOw is maple syrup urine disease inherited? What is the defect?
defective alpha ketoacid dehydrogenase (can't break down branched AA)
get buildup of isoleucine, leucine, valine
I Love Vermont Maple Syrup from maple trees (branched)
What are the symptoms of maple syrup urine disease?
sweet smelling urine
CNS defects, ID
What is the defect in alkaptonuria?
deficiency of homogentisate oxidase
can't convert tyrosine-->homogentisic acid-->(homogentisic oxidase)-->maleylacetoacetic acid-->fumarate-->TCA
What is the inheritance of alkaptonuria? What are the symptoms?
dark CT, brown sclera, urine turns black when exposed to air
Think Al Capone in Dark Suit
What is the treatment for alkaptonuria?
Vit C, avoid phenylalanine, tyrosine
Describe the pathways that start w/ homocysteine.
#1: homocysteine-->methionine via homocysteine methyltransferase, B12. Methionine-->SAM
#2: homocysteine-->cystathione via cystathione synthase, B6, serine. Cystathione-->Cysteine
What is required to make SAM?
What is the inheritance pattern of all types of homocysteinuria?
What are the findings in homocysteinuria?
increased homocysteine in urine
lens subluxation (downward)
Aside from homocysteinuria, what other condition has lens subluxation? Which direction?
Marfan--subluxation of lens upward. Pompous Michael Phelps.
Homocysteinuria--subluxation downward. Humble.
What defect leads to cystinuria? Inheritance?
COLA. defect in renal PCT and intestinal AA transporters to absorb cysteine, ornithine, lysine, arginine.