Clinical Chemistry Lecture- Chapter 5: Proteins

alpha amino acid

these are small biomolecules containing at least one amino group and one carboxyl group bonded to the alpha carbon

r groups, side chain

amino acids differ from one another by the chemical composition of their?

20

how many amino acid are used as building blocks for proteins?

amino acids

the building blocks of proteins

synthesized, diet

About half of the 20 AA are nutritionally essential, and cannot be _____ by the human body and should be acquired through?

aminoacidopathies

term used for rare, inherited disorders of amino acid metabolism

specific enzyme activity, membrane transport system of AA

what are the factors for amino acid abnormalities to exist?

phenylketonuria

an autosomal recessive trait characterized by the deficiency of the enzyme PAH

phenylalanine hydroxylase, phenylalanine-4-mono-oxygenase

what are the names of PAH?

phenylalanine, tyrosine

PAH enzyme catalyzes the conversion of?

retarded mental development

what is the clinical finding of phenylalanine?

>1,200 umol/L phenylalanine in blood, musty urine odor

what are the diagnosis indicators of phenylketonuria?

Guthrie bacterial inhibition assay

what is used as a screening test for phenylketonuria?

B. subtilis, B2-thienylalanine antagonist

what is the bacteria and inhibitor used in the Guthrie bacterial inhibition assay?

>4 mg/dl phenylalanine

what makes the GBIA test positive?

transaminase, phenylpyruvic acid

what would the enzyme and end product of phenylalanine in transport system?

tyrosinemia

familial metabolic disorders of tyrosine catabolism characterized by the deficiency of its enzyme

fumarylacetoacetate hydrolase (tyrosinemia I), tyrosine aminotransferase (tyrosinemia II), 4-hydrophenylpyruvic acid oxidase (tyrosinemia III)

what are the 3 enzymes of tyrosine mentioned in tyrosinemia?

tyrosine, tyrosine catabolites

in tyrosinemia, what is excreted in the urine?

alkaptonuria

one of the original “inborn errors of metabolism”

homogentisate oxidase

alkaptonuria is a biological defect in the lack of a specific enzyme of the tyrosine catabolic pathway, what is it?

250,000

alkaptonuria occurs in 1 out of _____ births

ochronosis (tissue pigmentation)

what is the clinical findings of alkaptonuria?

darken

a diagnostic indicator for alkaptonuria, is the standing of urine at room temperature for it to?