Amino Acids Flashcards
Their R groups are mostly Hydrocarbons (CH)
Non-polar hydrophobic
Their R groups are Alcohol, Phenol, Thiol, Amide
Polar and charged
Their R group can’t be seen but supposedly, the oxygen has a NEGATIVE charge
POLAR ACIDIC
positive charge can be seen its side chains
POLAR BASIC
When degraded = produce either Acetoacetyl-CoA/Acetyl-CoA
Ketogenic amino acids
Generate precursors of glucose.
Glucogenic amino acids
A 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
PKU is due to the absence of enzyme —
Phenylalanine hydroxylase (PAH)
phenylalanine hydroxylase catalyzes the conversion of - to -
Phenylalanine to tyrosine
Increase of Phenylalanine on the
BLOOD
Hyperphenylalaninemia
There is a presence of
Phenylalanine in the URINE
Phenylketonuria
Characterized by its musty/mousy odor
PKU
derived from the DEAMINATION of phenylalanine
PHENYLPYRUVATE
a biochemical process that involves the REMOVAL OF AN AMINO GROUP (-NH2) from an organic compound, particularly an amino acid.
DEAMINATION
a type of chemical reaction in which two or more molecules combine to form a new compound that has an extended system of delocalized electrons.
CONJUGATION
Guthrie Bacterial Inhibition Assay
- Bacteria that is incorporated in the agar plate
Spores of BACILLUS SUBTILIS
A semiquantitative, bacterial
inhibition assay for phenylalanine based on the ability of phenylalanine to facilitate bacterial growth in a culture medium despite the presence of a growth inhibitor.
GUTHRIE BACTERIAL INHIBITION ASSAY
direct measurement of phenylalanine in DRIED BLOOD FILTER DISKS
MICROFLUOROMETRIC ASSAY
Microfluorometric Assay
- tes requires pretreatment of the blood filter disk w
Trichloroacetic acid
The procedure is based on the FLUORESCENCE OF A COMPLEX formed by phenylalanine, ninhydrin, and copper in the presence of a dipeptide (L-leucyl-L-alanine)
MICROFLUOROMETRIC ASSAY
gold standard for detecting a variety of congenital diseases in newborns.
TANDEM MASS SPECTROMETRY
This form of tyrosinemia is caused by a mutation in the FAH gene, which codes for the enzyme fumarylacetoacetate hydrolase (FAH)
Type 1 tyrosinemia
caused by a mutation in the TAT gene, which leads to a deficiency of the enzyme tyrosine aminotransferase (TAT)
Type II tyrosinemia
a rare disorder
caused by a mutation in the HPD gene that results in deficiency of the enzyme 4-hydroxyphenylpyruvate dioxygenase (HPD)
Type II tyrosinemia
toxic metabolite that forms when tyrosine cannot be metabolized through the appropriate enzymatic pathway.
Succinylacetone
Treatment for tyrosinemia
Low protein diet + nitisinone
Alkaptonuria —> deficient in enzyme -
Homogentisate oxidase
1st symptom of alkaptonuria
Arthritis like degeneration
DARK BLUE BLACK PIGMENTATION when HGA is deposited in the cartilage of the ears, nose, and tendons of the extremities
OCHRONOSIS
Maple syrup disease is due to the absence of a complex of enzymes known as
A-keto acid decarboxylase
Screening fr maple syrup disease utilizes an agar plate containing —- for the modified Guthrie test
4-azaleucine
Autosomal recessive disorder; mutation of the IVD gene
Isovaleric acidemia
Treatment for Isovaleric acidemia
- protein restrictive diet
- oral accumulation of glycine and carnitine
Mutation n the CBS gene
(deficiency of the enzyme
cystathionine β- synthase)
Homocystinuria
This deficiency results in elevated plasma and urine concentrations of METHIONIEN and of the precursor HOMOCYSTEINE.
HOMOCYSTINURIA
Treatment of homocystinuria
Reduce conc. Of methionine and high doses of vit b6
Cyanide-Nitroprusside Urine Spot Test produce what color
Red purple color
Confirmation of homocysteine
Silver-nitroprusside Test
In Silver-nitroprusside Test— Silver nitrate reduces
homocysteine to form -
Reddish color
Result of a mutation in the ASS1 gene
○ Lack of the enzyme argininosuccinic acid synthetase (ASS)
Type I citrullinemia
Caused by a mutation in the SLC25A13
gene whch codes for prod of citrin
Type II citrullinemia
cells are prevented from making citrin, which inhibits the urea cycle
Type II citrullinemia
THe result of a mutation in the ASL gene
LACk the enzyme argininosuccinic acid lyase (ASL)
Argininosuccinic aciduria
Characterized by inadequate reabsorption of cystine during urine formation in the kidneys
Cystinuria
A RED-PURPLE COLOR on reaction with sulfhydryl groups for diagnosis of cystinuria
Cyanide nitroprusside test
Aromatic urine odor
Normal
Foul, ammonia like urine odor
Bacterial decomposition
Urinary tract Infection
Fruity sweet urine odor
Ketones (diabetes mellitus, starvation, vomiting)
Maple syrup burnt sugar urine odor
Maple syrup urine disease
Mousy urine odor
Phenylketonurria
Rancid urine disorder
Tyrosinemia
Sweaty feet urinen odor
Isovaleric acidemia
Cabbage urine dor
Methionine malabsorption
Bleach urine odor
Contamination
