UAMS Biochemistry exam 3 UPDATED
ACTUAL Questions and CORRECT
Answers
Basic Structure of Amino Acids(AA) - CORRECT ANSWER - At least one of both
amino(H2H) and carboxylic(COOH) functional group
Polypeptide - CORRECT ANSWER - chain of amino acids
Large polypeptide - CORRECT ANSWER - protein
Essential Amino Acids(PVT) - CORRECT ANSWER - Phenylalanine, valine, theronine
Essential Amino Acids(TIM) - CORRECT ANSWER - Tryptophan, isoleucine,
methionine
Essential Amino Acids(HALL) - CORRECT ANSWER - Histidine, argnine, leucine,
lyside
Phenylketonuria(PKU) - CORRECT ANSWER - -Autosomal recessive, 1:15,000
-Absence of phenylalanine hydrolase(PAH)
-PAH coverts phenylalanine—>tyrosine
-Can lead to significant and permanent brain damage
Phenylketonuria(PKU) test methods - CORRECT ANSWER - -Guthrie test- old semi-
quantitative bacterial inhibition assay
-Replaces with HPLC, MS/MS and micro fluormetric assay for phenylalanine on dried blood
filter discs
,Phenylketonuria(PKU) results - CORRECT ANSWER - Increased phenylalanine and
decreased tyrosine
Tyrosinemia - CORRECT ANSWER - inherited disorders of tyrosine metabolism can
result in three types of tyrosinemia, each caused by deficiency of a different enzyme
Tyrosinemia type I - CORRECT ANSWER - 1:100,000, liver/kidney failure, CNS issues,
mutation in fumarylacetoacetate hydrolase(FAH)
Tyrosinemia type II - CORRECT ANSWER - 1:250,000
Tyrosinemia type III - CORRECT ANSWER - Very rare
Tyrosinemia results - CORRECT ANSWER - Increased blood tyrosine and
succinylacetone
Alkaptonuria - CORRECT ANSWER - -Inherited autosomal recessive, 1:250,000
-Deficiency in homogentistate oxidase(HGD)
-Elevated homogentistic acid
-Brown urine if exposed to air
Alkaptonuria test method - CORRECT ANSWER - Ferric chloride is a rapid test, turns
urine black
Maple Syrup Urine Disease(MSUD) - CORRECT ANSWER - -Absence of branched
chain alpha-keto acid decarboylase(BCKD)
-Inhibits metabolism of leucine, isoleucine and valine
-1:185,000
-Possible brain injury, muscle rigidity and respiratory irregularities
, -
Maple Syrup Urine Disease(MSUD) test methods - CORRECT ANSWER - Modified
Guthrie test, micro fluorometric assay or DNA mutation detection assay
Homocystinuria - CORRECT ANSWER - -Autosomal recessive 1:200,000
-MTHFR mutation
-Deficiency in enzyme cystathionine beta-synthase, needed for metabolism of methionine
Homocytinuria test methods - CORRECT ANSWER - -Screen with modified Guthrie
-Confirm with HPLC/MS-MS
Cystinuria - CORRECT ANSWER - -Autosomal recessive 1:10,000
-Mutation in SLC3A1/SLL7A9
-Mutation causes inadequate reabsorption of cystine in kidney
-Cystine can precipitate out of urine by the form of stone
Cystinuria test method - CORRECT ANSWER - Urine + cyanice nitroprusside
isoelectric point - CORRECT ANSWER - Point at which a compound is electrically
neutral.
Prealbumin - CORRECT ANSWER - -Migrates ahead of albumin in classic
electrophoresis of proteins
-Critical to transport retinol(vitamin A)
Decrease in prealbumin? - CORRECT ANSWER - Nutritional deficiency, liver damage
ACTUAL Questions and CORRECT
Answers
Basic Structure of Amino Acids(AA) - CORRECT ANSWER - At least one of both
amino(H2H) and carboxylic(COOH) functional group
Polypeptide - CORRECT ANSWER - chain of amino acids
Large polypeptide - CORRECT ANSWER - protein
Essential Amino Acids(PVT) - CORRECT ANSWER - Phenylalanine, valine, theronine
Essential Amino Acids(TIM) - CORRECT ANSWER - Tryptophan, isoleucine,
methionine
Essential Amino Acids(HALL) - CORRECT ANSWER - Histidine, argnine, leucine,
lyside
Phenylketonuria(PKU) - CORRECT ANSWER - -Autosomal recessive, 1:15,000
-Absence of phenylalanine hydrolase(PAH)
-PAH coverts phenylalanine—>tyrosine
-Can lead to significant and permanent brain damage
Phenylketonuria(PKU) test methods - CORRECT ANSWER - -Guthrie test- old semi-
quantitative bacterial inhibition assay
-Replaces with HPLC, MS/MS and micro fluormetric assay for phenylalanine on dried blood
filter discs
,Phenylketonuria(PKU) results - CORRECT ANSWER - Increased phenylalanine and
decreased tyrosine
Tyrosinemia - CORRECT ANSWER - inherited disorders of tyrosine metabolism can
result in three types of tyrosinemia, each caused by deficiency of a different enzyme
Tyrosinemia type I - CORRECT ANSWER - 1:100,000, liver/kidney failure, CNS issues,
mutation in fumarylacetoacetate hydrolase(FAH)
Tyrosinemia type II - CORRECT ANSWER - 1:250,000
Tyrosinemia type III - CORRECT ANSWER - Very rare
Tyrosinemia results - CORRECT ANSWER - Increased blood tyrosine and
succinylacetone
Alkaptonuria - CORRECT ANSWER - -Inherited autosomal recessive, 1:250,000
-Deficiency in homogentistate oxidase(HGD)
-Elevated homogentistic acid
-Brown urine if exposed to air
Alkaptonuria test method - CORRECT ANSWER - Ferric chloride is a rapid test, turns
urine black
Maple Syrup Urine Disease(MSUD) - CORRECT ANSWER - -Absence of branched
chain alpha-keto acid decarboylase(BCKD)
-Inhibits metabolism of leucine, isoleucine and valine
-1:185,000
-Possible brain injury, muscle rigidity and respiratory irregularities
, -
Maple Syrup Urine Disease(MSUD) test methods - CORRECT ANSWER - Modified
Guthrie test, micro fluorometric assay or DNA mutation detection assay
Homocystinuria - CORRECT ANSWER - -Autosomal recessive 1:200,000
-MTHFR mutation
-Deficiency in enzyme cystathionine beta-synthase, needed for metabolism of methionine
Homocytinuria test methods - CORRECT ANSWER - -Screen with modified Guthrie
-Confirm with HPLC/MS-MS
Cystinuria - CORRECT ANSWER - -Autosomal recessive 1:10,000
-Mutation in SLC3A1/SLL7A9
-Mutation causes inadequate reabsorption of cystine in kidney
-Cystine can precipitate out of urine by the form of stone
Cystinuria test method - CORRECT ANSWER - Urine + cyanice nitroprusside
isoelectric point - CORRECT ANSWER - Point at which a compound is electrically
neutral.
Prealbumin - CORRECT ANSWER - -Migrates ahead of albumin in classic
electrophoresis of proteins
-Critical to transport retinol(vitamin A)
Decrease in prealbumin? - CORRECT ANSWER - Nutritional deficiency, liver damage
