CR III - AA Metabolism Disorders Flashcards
What is deficient in tyrosinemia type I? What three areas are mainly affected?
Fumarylacetoacetate hydrolase
Liver, kidney, peripheral nerves
What are the two treatments for tyrosinemia type I? What disease are you really converting them to?
NTBC plus diet
Liver transplant
Tyrosemia type II
What is excess phenylalanine toxic to?
CNS
How do you treat phenylketonuria?
Diet low in phenylalanine
What two areas of the body are most affected by tyrosinemia type 2? What third area is sometimes affect?
Eye - corneal opacity due to tyrosine crystals
Skin lesions due to crossliked cytoskeletal filaments
Variable degree of mental retardation (CNS) - <50% of pts
How does treatment for phenylketonuria differ if the disorder lies in biopterin metabolism?
Supplement with oral tetrahydrobiopterin
PKU women who want to have children should do what before pregnancy?
Restricted dietary intake of phenylalanine
What is delayed in maturing in neonatal tyrosinemia?
What is the treatment?
P-hydroxyphenylpyruvate oxidase
Dietary
What is the treatment for tyrosinemia type 2?
Low dietary tyrosine and phenylalanine
If untreated in infants, what will phenylketonuria cause?
Lose 50IQ in first year
Ultimately IQ < 50
What is difficient in Maple Syrup Urine Disease?
Branched chain alpha-ketoacid dehydrogenase
What is deficient in alcaptonuria? Why is urine black? What are people with this disorder at greater risk for in the future?
Homogentisate oxidase
Homogentisate excreted in urine oxidizes with air, converting to dark pigments
Arthritis
What is deficient in tyrosinemia type 2? What are two other names for this disorder?
Tyrosine amino transferase
Oculocutaneous tyrosinemia
Richner-Hanhart syndrome
What group of disorders are characterized by a functional deficiency of phenylalanine hydroxylase?
Phenylketonuria
What symtoms are seen in MSUD? What is the treatment?
Severe neurological symptoms
Dietary treatment
