UAMS Biochemistry Exam #3 UPDATED ACTUAL Questions and CORRECT
Answers
What is a chain of amino acids? Polypeptide
What is a large polypeptide? Protein
How many amino acids needed by humans 10
can be synthesized by the body?
How must we get the other 10 essential Proteins in food
amino acids, not provided by the body?
, PVT TIM HALL
Which amino acids are essential? Phenylalanine, Valine, Tryptophan, Threonine, Isoleucine, Methionine, Histidine,
Arginine, Leucine, Lysine
alanine, arginine, asparagine, aspartate, cysteine, glutamate, glutamine, glycine,
Which amino acids are nonessential?
proline, serine, tyrosine
Inherited enzyme defect that inhibits metabolism of certain amino acids. This can
What is aminoacidopathies? cause severe medical complications due to buildup of toxic amino acids and by-
products of amino acid metabolism in blood.
Absence of activity of phenylalanine hydrolase (PAH). Can lead to significant and
What is Phenylketonuria (PKU)?
permanent brain damage, greatly delayed mental development & microcephaly.
If a patient has a PKU, what will their urine "Musty" or "Mousy" odor.
smell like?
What is used for the diagnosis of PKU? Guthrie Test
What is a Guthrie Test? semi-quantitative bacterial inhibition assay for phenylalanine.
What is a tell sign for PKU? Ration of phe/ tyr (increases specificity and lowers false negative to 0.01%
What is used for treatment in patients with A diet with proteins low in phenylalanine.
PKU?
○ Type I- 1 in 100,000- liver/ kidney failure, CNS issues, usually do not live past age 10.
Caused by mutation in fumarylacetoacetate hydrolase (FAH) gene- required for
What are the 3 types of Tyrosinemia? metabolism of tyrosine.
○ Type II- 1 in 250,000
○ Type III- very rare, very few cases reported
How is Tyrosinemia characterized? Exertion of tyrosine in urine (Tyrosinuria)
What is used for the diagnosis of Elevated blood levels of Tyrosine and succinylacetone.
Tyrosinemia?
What is the treatment for Tyrosinemia? Low protein diet, meds are available.
Mutation in genes leads to deficiency in enzyme homogentistate oxidase (HGD) &
What is Alkaptonuria?
leads to elevated homogentistic acid (HGA).
How is HGA deposited? Into cartilage (extremities, such as ear, nose, etc.)
How will urine look if you have Brownish black if allowed to mix with air.
Alkaptonuria?
What is the rapid test for Alkaptonuria? Ferric chloride (turns urine black)
What is Maple Syrup Urine Disease results from absence of complex of enzymes known as branched chain alpha-keto
(MSUD)? acid decarboxylase (BCKD).
Inhibits normal metabolism of leucine, isoleucine, and valine. May result in brain
What does MSUD cause?
injury, muscle rigidity, and respiratory irregularities.
What is the treatment for MSUD? Diet, restricting appropriate amino acids.
What is the diagnosis for MSUD? Modified Guthrie test, microfluorometric assay, or DNA mutation detection.
Who is MSUD most common among? Mennonites of Eastern Pennsylvania & Ashkenazi Jews.
Deficiency in enzyme cystathionine Beta-synthase, which is needed for metabolism
What is Homocystinuria?
of methionine.
What is the treatment for Homocystinuria? Dietary restrictions/ Vitamin B6
What is the diagnosis of Homocystinuria? Modified Guthrie, HPLC/ MS-MS for confirmation.
What is a tell sign for Homocystinuria? Increased serum/ urine levels of methionine/ homocysteine
Answers
What is a chain of amino acids? Polypeptide
What is a large polypeptide? Protein
How many amino acids needed by humans 10
can be synthesized by the body?
How must we get the other 10 essential Proteins in food
amino acids, not provided by the body?
, PVT TIM HALL
Which amino acids are essential? Phenylalanine, Valine, Tryptophan, Threonine, Isoleucine, Methionine, Histidine,
Arginine, Leucine, Lysine
alanine, arginine, asparagine, aspartate, cysteine, glutamate, glutamine, glycine,
Which amino acids are nonessential?
proline, serine, tyrosine
Inherited enzyme defect that inhibits metabolism of certain amino acids. This can
What is aminoacidopathies? cause severe medical complications due to buildup of toxic amino acids and by-
products of amino acid metabolism in blood.
Absence of activity of phenylalanine hydrolase (PAH). Can lead to significant and
What is Phenylketonuria (PKU)?
permanent brain damage, greatly delayed mental development & microcephaly.
If a patient has a PKU, what will their urine "Musty" or "Mousy" odor.
smell like?
What is used for the diagnosis of PKU? Guthrie Test
What is a Guthrie Test? semi-quantitative bacterial inhibition assay for phenylalanine.
What is a tell sign for PKU? Ration of phe/ tyr (increases specificity and lowers false negative to 0.01%
What is used for treatment in patients with A diet with proteins low in phenylalanine.
PKU?
○ Type I- 1 in 100,000- liver/ kidney failure, CNS issues, usually do not live past age 10.
Caused by mutation in fumarylacetoacetate hydrolase (FAH) gene- required for
What are the 3 types of Tyrosinemia? metabolism of tyrosine.
○ Type II- 1 in 250,000
○ Type III- very rare, very few cases reported
How is Tyrosinemia characterized? Exertion of tyrosine in urine (Tyrosinuria)
What is used for the diagnosis of Elevated blood levels of Tyrosine and succinylacetone.
Tyrosinemia?
What is the treatment for Tyrosinemia? Low protein diet, meds are available.
Mutation in genes leads to deficiency in enzyme homogentistate oxidase (HGD) &
What is Alkaptonuria?
leads to elevated homogentistic acid (HGA).
How is HGA deposited? Into cartilage (extremities, such as ear, nose, etc.)
How will urine look if you have Brownish black if allowed to mix with air.
Alkaptonuria?
What is the rapid test for Alkaptonuria? Ferric chloride (turns urine black)
What is Maple Syrup Urine Disease results from absence of complex of enzymes known as branched chain alpha-keto
(MSUD)? acid decarboxylase (BCKD).
Inhibits normal metabolism of leucine, isoleucine, and valine. May result in brain
What does MSUD cause?
injury, muscle rigidity, and respiratory irregularities.
What is the treatment for MSUD? Diet, restricting appropriate amino acids.
What is the diagnosis for MSUD? Modified Guthrie test, microfluorometric assay, or DNA mutation detection.
Who is MSUD most common among? Mennonites of Eastern Pennsylvania & Ashkenazi Jews.
Deficiency in enzyme cystathionine Beta-synthase, which is needed for metabolism
What is Homocystinuria?
of methionine.
What is the treatment for Homocystinuria? Dietary restrictions/ Vitamin B6
What is the diagnosis of Homocystinuria? Modified Guthrie, HPLC/ MS-MS for confirmation.
What is a tell sign for Homocystinuria? Increased serum/ urine levels of methionine/ homocysteine
