Clinical Chemistry: Principles, Techniques, and Correlations
This summarizes the Chapter 10 of Bishop's Clinical Chemistry book. This characterizes the different amino acids, proteins and the disorders associated with each of it. This will help students to make studying much easier for this topic.
TEST BANK for Clinical Chemistry Principles, Techniques, and Correlations 9th Edition by Bishop Fody|BEST STUDY
Test Bank for Clinical Chemistry Principles, Techniques, and Correlations 9th Edition by Michael L. Bishop| 9781284238860| All Chapters 1-31| LATEST
TEST BANK for Clinical Chemistry Principles, Techniques, and Correlations 9th Edition by Bishop Fody, All 31 Chapters Covered, Verified Latest Edition ISBN:9781284238860
All for this textbook (41)
Written for
University of the Immaculate Conception
MLS125 (MLS125)
All documents for this subject (3)
Seller
Follow
cristellumikid
Content preview
A. AMINO ACIDS
• Contains at least one of both amino and carboxylic acid functional groups.
• N-terminal end amino group (-NH2) and the C terminal end carboxyl group (-COOH) bond to
the alphacarbon with the amino group of one amino acid linking with the carboxyl group of
another → peptide bond.
• CHAIN OF AMINO ACIDS → polypeptide → protein
• Difference in amino acids depends on the chemical composition of the R group.
➢ METABOLISM
• Minimal synthesis in the body, must be supplied by the DIET.
• Essential amino acids: arginine, histidine, isoleucine, leucine, lysine, methionine,
phenylalanine, threonine, tryptophan, and valine
• Produced by the body: alanine, asparagine, aspartic acid, cysteine, glutamic acid,
glutamine, glycine, proline, serine, and tyrosine.
• Digestion: proteolytic enzymes (pepsin and trypsin) • Rapidly observed from the intestine
into the circulation.
• Amino acids - utilized for synthesis of → nonprotein nitrogen-containing compounds
(purines, pyrimidines, porphyrins, creatine, histamine, thyroxin, epinephrine, and the
coenzyme NAD).
Tyrosinemia • Inborn metabolic disorders of tyrosine catabolism
• Urine metabolites: tyrosine and tyrosine catabolites
• Type I tyrosinemia:
✓ most severe form
✓ low levels of fumarylacetoacetate hydrolase
✓ failure to thrive, diarrhea, vomiting, jaundice, cabbage-like
odor, distended abdomen, swelling of legs and increased
predisposition for bleeding.
• Type II tyrosinemia
✓ low levels of tyrosine aminotransferase
✓ mental retardation, excessive tearing, photophobia, eye pain,
and redness and painful skin lesions.
• Type III tyrosinemia
✓ rare disorder
✓ low levels of 4-hydroxyphenylpyruvate dioxygenase
• Diagnosis: elevated tyrosine levels using MS/MS coupled with a
confirmatory test (increased levels of succinylacetone)
• Urine: turns brownish-black when mixed with air.
, • Autosomal recessive disorder
• Accumulation of branched-chain amino acids and their
corresponding ketoacids in the blood, urine, and CSF
• Neonatal screening: modified Guthrie’s test (metabolic inhibitor to
B. subtilis – 4 azaleucine)
• Mutations in the isovaleryl CoA dehydrogenase ( IVD) gene
• “sweaty feet” odor of urine.
• Cause CNS problems
• Treatment: restrict diet of protein, glycine and carnitine intake.
Homocystinuria • Autosomal recessive disorder of amino acid metabolism
• Lack of enzyme: cystathionine-Beta synthetase → required for
methionine metabolism
• Increased methionine and homocysteine
• Associated with osteoperosis, dislocated lenses in the eye (collagen
deficiency), mental retardation
• Treatment: restrict methionine in diet, vitamin B6 supplementation,
& trimethylglycine, folic acid supplementation, cysteine
(sometimes).
• Guthrie’s test using L-methionine sulfoximine as metabolic inhibitor.
Cystinuria • Inherited autosomal recessive
• Amino acid transport system defect
• Inadequate reabsorption of cysteine during the filtering process in
the kidneys.
• Urine: formation of precipitates → stone formation in the urinary
tract
• Hematuria, pain in the side, UTI.
• Treatment: increase urine volume to reduce concentration of
cysteine (increased water consumption)
• Cyanide nitroprusside test → red purple color reaction with
sulfhydryl groups.
• Quantitative: Ion exchange chromatography
METHODS OF AMINO • Fasting: 6 – 8 hours
ACID ANALYSIS • Heparinized plasma
• Deproteinization → performed within 30 minutes of sample
collection and analysis should be performed immediately or the
sample frozen @ -200C to 400C.
• Quantitative urinary amino acid analysis: 24 hour urine sample
preserved in thymol or organic solvents is required.
• Screening test: Thin layer chromatography
• Quantification: Ion exchange chromatography, HPLC reversed-phase
system equipped with fluorescence detection or capillary
electrophoresis.
• MS/MS: highly sensitive
The benefits of buying summaries with Stuvia:
Guaranteed quality through customer reviews
Stuvia customers have reviewed more than 700,000 summaries. This how you know that you are buying the best documents.
Quick and easy check-out
You can quickly pay through credit card or Stuvia-credit for the summaries. There is no membership needed.
Focus on what matters
Your fellow students write the study notes themselves, which is why the documents are always reliable and up-to-date. This ensures you quickly get to the core!
Frequently asked questions
What do I get when I buy this document?
You get a PDF, available immediately after your purchase. The purchased document is accessible anytime, anywhere and indefinitely through your profile.
Satisfaction guarantee: how does it work?
Our satisfaction guarantee ensures that you always find a study document that suits you well. You fill out a form, and our customer service team takes care of the rest.
Who am I buying these notes from?
Stuvia is a marketplace, so you are not buying this document from us, but from seller cristellumikid. Stuvia facilitates payment to the seller.
Will I be stuck with a subscription?
No, you only buy these notes for $8.49. You're not tied to anything after your purchase.
