Amino Acidpathies Flashcards
What defective enzyme causes PKU?
Phenylalanine hydroxylase preventing conversion of phenylalanine to tyrosine
What is the precursor to dopamine?
L-Dopa
The accumulation of phenylalanine/phenylpyruvic acid (phenylketone) leads to what?
Leads to severe metabolic acidosis and neurological problems. Its treated by supplemental enzyme and monitoring diet.
What is the deficient enzyme of the most severe form of tyrosinemia?
Type I, fumarylacetoacetate hydrolase
Type I tyrosinemia symptoms are? What else could they develop long term?
Symptoms are failure to thrive, jaundice, cabbage-like odor, and nose bleeds. They can develop liver, kidney failure, neuropathy, and hepatic tumors.
What enzyme does type II tyrosinemia lack? What are their symptoms?
Deficiency of tyrosine aminotransferase. Excessive tearing, photophobia, eye pain, lesions, and mental retardation.
What enzyme is deficient in type III tyrosinemia? What are their symptoms?
Deficiency of 4-hydroxyphenylpyruvate dioxygenase. Symptoms are mild retardation, seizures, and intermittent ataxia (lack of voluntary muscular movement)
What is the defective enzyme in alkaptonuria?
Homogentisate oxidase
What product accumulates in alkaptonuria and where is it deposited?
Homogentisic acid. Its deposited in connective tissue, cartilage, and skin.
What are the effects of alkaptonuria in the human body?
Darkening of the skin, urine, arthritis, kidney, prostate calculi, and heart problems. Urine turns black when exposed to air.
What defective enzyme leads to maple syrup urine disease?
Alpha-ketoacid dehydrogenase
What three amino acids cannot be broken down in maple syrup urine disease?
Valine, Isoleucine, and Leucine (branched chain)
What are the symptoms people with maple syrup urine disease have?
Poor feeding, vomiting, lethargy, seizures, and developmental delays. Urine smells like maple syrup.
What defective enzyme leads to isovaleric acidemia?
isovaleryl-CoA dehydrogenase (IVD) enzyme leading to accumulation of isovaleric acid.
The accumulation of isovaleric acid leads to what symptoms?
Sweaty feet odor, poor feeding, vomiting, lethary, and progress to coma.
