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;
14 Cards in this Set
- Front
- Back
|
PKU
|
Phenylalanine hydroxylase (PAH)
Phe -> Tyr |
|
|
Tyrosinemia II
|
Tyrosine aminotransferase (TAT)
Tyr -> p-hydroxyphenylpyruvic acid |
|
|
Tyrosinemia III
|
HPPA dioxygenase
HPPA -> homogentisic acid |
|
|
Effect of NTBC (drug)
|
Blocks HPPA dioxygenase, converts tyrosinemia type I to type III
|
|
|
Lab analyte in type III tyrosinemia
|
Urine: 4-OHphenyllactate
and 4-OHphenylacetate |
|
|
Alkaptonuria
|
Homogentisate oxidase
Homogentisate -> maleylacetoacetate |
|
|
Maleylacetoacetate reversibly interconverts with this normal metabolite
|
fumarylacetoacetate
|
|
|
Tyrosinemia type I
|
Fumarylacetoacetate hydrolase
Fumarylacetoacetate -> fumarate and acetoacetate |
|
|
Excess maleylacetoacetate and fumarylacetoacetate form this
|
Succinylacetoacetate -> succinylacetone
|
|
|
Effect of succinylacetone
|
Inhibits PBG synthase, causing acute porphyria-like crises
|
|
|
Maleylacetoacetate and fumarylacetoacetate do this to liver:
|
Alkylating DNA damage, causing increased risk of liver cancer
|
|
|
Treatments for hepatorenal (type I) tyrosinemia
|
NTBC
(Liver transplant) |
|
|
Measurement of serum tyrosine in tyrosinemia
|
Very variable, often normal
|
|
|
Lab analyte for tyrosinemia type I
|
succinylacetone
|
