Amino Acids and Proteins Flashcards
(280 cards)
Class of inherited errors of metabolism in which there is an enzyme defect that inhibits the body’s ability to metabolize certain amino acids
Aminoacidopathies
Cause of phenylketonuria
Phenylalanine hydroxylase (PAH)
deficiency
Urine odor of patient with phenylketonuria
Musty/Mousy odor
Patients with PKU may experience
Mental retardation
Microcephaly
A co-factor in the enzymatic hydroxylation of phenylalanine, tryptophan, and tyrosine
Tetrahydrobiopterin
Non-protein chemical/entity that must bind to a particular enzyme before a reaction occurs
Co-factor
Allows early detection IEM and early implementation of the treatment
Newborn screening test
Goal of PKU treatment
Maintain blood level of phenylalanine (2-10 mg/dL or 120- 160 μmol/L)
First drug to manage PKU
Kuvan (sapropterin dihydrochloride)
Positive result of Ferric Chloride Tube Test for PKU
Permanent blue-green color
Positive result of Guthrie Bacterial Inhibition Test for PKU
Bacterial growth
Inhibitor of B. subtilis
B-2-thienylalanine
Reference method for quantitative serum phenylalanine
High-Performance Liquid Chromatography (HPLC)
Used in screening for inherited disorders in newborns
Tandem Mass Spectrometry (MS/MS)
Characterized by the excretion of tyrosine and tyrosine catabolites in urine
Tyrosinemia
Cause of type 1 tyrosinemia
Fumarylacetoacetate hydrolase deficiency
Most severe form of tyrosinemia
Type 1
Cause of type 2 tyrosinemia
Tyrosine aminotransferase deficiency
Cause of type 3 tyrosinemia
4-hydroxyphenylpyruvate dioxygenase or p-hydroxyphenylpyruvic acid dioxygenase deficiency
Positive result of Ferric chloride tube test for tyrosinemia
Transient green color
Positive result of Nitroso-naphthol test for tyrosinemia
Orange-red color
Drug to treat tyrosinemia
Nitrisinone
Cause of alkaptonuria
Homogentisate oxidase deficiency
Urine color of patient with alkaptonuria
Brownish-black after exposure to air