Question 1

Of the following,what is the inborn error of metabolism for propionic acidemia?

Accepted Answer

A)  Disorder of fatty acid oxidation 
B)  Aminoacidopathy 
C)  Organic acidemia 
D)  Disorder of carbohydrate metabolism 
A)  Disorder of fatty acid oxidation 
B)  Aminoacidopathy 
C)  Organic acidemia 
D)  Disorder of carbohydrate metabolism B

Question 2

Newborn screening is considered a public health activity that aims to identify and treat possible deadly conditions early in an infant's life.Which one of the following characteristics must be met before a disease can be part of a screening program?

Accepted Answer

A)  The disease must be rare. 
B)  Genetic counseling and treatment for the disease must be available. 
C)  The natural history of the disease must be unclear. 
D)  Screening for the disease must only be offered to those who would benefit most from it. 
A)  The disease must be rare. 
B)  Genetic counseling and treatment for the disease must be available. 
C)  The natural history of the disease must be unclear. 
D)  Screening for the disease must only be offered to those who would benefit most from it. B

Question 3

Hyperphenylalaninemia due to classic phenylketonuria (PKU)is accompanied by all the following except:

Accepted Answer

A)  elevation of blood tyrosine. 
B)  elevation in urinary phenylketones. 
C)  elevation in blood phenylalanine correctable by dietary phenylalanine restriction. 
D)  mental retardation if left untreated. 
A)  elevation of blood tyrosine. 
B)  elevation in urinary phenylketones. 
C)  elevation in blood phenylalanine correctable by dietary phenylalanine restriction. 
D)  mental retardation if left untreated. A

Question 4

The disorder that is identified by increased serum carnitine and urine glutaric acid on newborn screening is:

Accepted Answer

A)  PKU. 
B)  tyrosinemia. 
C)  glutaric acidemia type 1. 
D)  glycine encephalopathy. 
A)  PKU. 
B)  tyrosinemia. 
C)  glutaric acidemia type 1. 
D)  glycine encephalopathy.

Question 5

Of the following,what is the inborn error of metabolism for maple syrup urine disease?

Accepted Answer

A)  Disorder of fatty acid oxidation 
B)  Aminoacidopathy 
C)  Organic acidemia 
D)  Disorder of carbohydrate metabolism 
A)  Disorder of fatty acid oxidation 
B)  Aminoacidopathy 
C)  Organic acidemia 
D)  Disorder of carbohydrate metabolism

Question 6

An autosomal recessive disorder:

Accepted Answer

A)  is characterized by a 50% chance of an individual having the disease phenotype if the parents are heterozygous for the trait. 
B)  is defined as one in which there is a mutation in both alleles encoding for a specific enzyme/transporter. 
C)  affects males approximately 25% more than females because the allele is present on the X chromosome. 
D)  is one in which parents of diseased offspring are carriers of the condition in that they carry two mutant alleles. 
A)  is characterized by a 50% chance of an individual having the disease phenotype if the parents are heterozygous for the trait. 
B)  is defined as one in which there is a mutation in both alleles encoding for a specific enzyme/transporter. 
C)  affects males approximately 25% more than females because the allele is present on the X chromosome. 
D)  is one in which parents of diseased offspring are carriers of the condition in that they carry two mutant alleles.

Question 7

Dietary restriction of foods containing the branched-chain amino acids is one of the treatments required for individuals with:

Accepted Answer

A)  phenylketonuria. 
B)  glutaric acidemia type 1. 
C)  maple syrup urine disease. 
D)  alkaptonuria. 
A)  phenylketonuria. 
B)  glutaric acidemia type 1. 
C)  maple syrup urine disease. 
D)  alkaptonuria.

Question 8

What is the advantage of tandem mass spectrometry (MS/MS)multiplex analysis?

Accepted Answer

A)  It eliminates the need for second-tier testing by providing a built-in confirmatory test. 
B)  Multiple metabolites are detected simultaneously in one blood sample to allow for detection of several disorders at once. 
C)  Tests are performed singly so a single disorder is tested for with a single specimen. 
D)  It allows for screening of a large number of infants not only for PKU,but also for other disorders of amino acid metabolism using different growth antagonists. 
A)  It eliminates the need for second-tier testing by providing a built-in confirmatory test. 
B)  Multiple metabolites are detected simultaneously in one blood sample to allow for detection of several disorders at once. 
C)  Tests are performed singly so a single disorder is tested for with a single specimen. 
D)  It allows for screening of a large number of infants not only for PKU,but also for other disorders of amino acid metabolism using different growth antagonists.

Question 9

What is the basic setup of a tandem mass spectrometry analyzer?

Accepted Answer

A)  Tandem mass spectrometry uses a UV laser to ionize small amounts of matrix and analyte that are directed toward mass analyzer. 
B)  Tandem mass spectrometry is primarily for complex compound analysis,while tandem mass spectrometry is used for elemental analysis only. 
C)  Tandem mass spectrometry uses an ion trap designed to trap ions in three dimensions instead of two dimensions as in a typical beam type of mass spectrometer. 
D)  Two beam type mass spectrometers are arranged sequentially in tandem mass spectrometry,with a "collision cell" placed between the two instruments. 
A)  Tandem mass spectrometry uses a UV laser to ionize small amounts of matrix and analyte that are directed toward mass analyzer. 
B)  Tandem mass spectrometry is primarily for complex compound analysis,while tandem mass spectrometry is used for elemental analysis only. 
C)  Tandem mass spectrometry uses an ion trap designed to trap ions in three dimensions instead of two dimensions as in a typical beam type of mass spectrometer. 
D)  Two beam type mass spectrometers are arranged sequentially in tandem mass spectrometry,with a "collision cell" placed between the two instruments.

Question 10

Of the following,what is the inborn error of metabolism for medium chain acyl-CoA dehydrogenase deficiency?

Accepted Answer

A)  Disorder of fatty acid oxidation 
B)  Aminoacidopathy 
C)  Organic acidemia 
D)  Disorder of carbohydrate metabolism 
A)  Disorder of fatty acid oxidation 
B)  Aminoacidopathy 
C)  Organic acidemia 
D)  Disorder of carbohydrate metabolism

Question 11

The disorder that is identified by increased serum carnitine and urine glutaric acid on newborn screening is characterized by dysfunctional metabolism of:

Accepted Answer

A)  hydroxylysine and phenylalanine. 
B)  tyrosine and tryptophan. 
C)  tryptophan,hydroxylysine,and lysine. 
D)  cystine and hydroxylysine. 
A)  hydroxylysine and phenylalanine. 
B)  tyrosine and tryptophan. 
C)  tryptophan,hydroxylysine,and lysine. 
D)  cystine and hydroxylysine.

Question 12

Of the following,what is the inborn error of metabolism for glycogen storage disease?

Accepted Answer

A)  Disorder of fatty acid oxidation 
B)  Aminoacidopathy 
C)  Organic acidemia 
D)  Disorder of carbohydrate metabolism 
A)  Disorder of fatty acid oxidation 
B)  Aminoacidopathy 
C)  Organic acidemia 
D)  Disorder of carbohydrate metabolism

Question 13

Of the following,what is the inborn error of metabolism for glutaric acidemia type 1?

Accepted Answer

A)  Disorder of fatty acid oxidation 
B)  Aminoacidopathy 
C)  Organic acidemia 
D)  Disorder of carbohydrate metabolism 
A)  Disorder of fatty acid oxidation 
B)  Aminoacidopathy 
C)  Organic acidemia 
D)  Disorder of carbohydrate metabolism

Question 14

An example of a confirmatory laboratory test used to verify a borderline abnormal newborn screening test result in an asymptomatic individual would be gas chromatography combined with mass spectrometry,particularly for organic acid analysis.

Accepted Answer

A) True 
 B)False

Question 15

A newborn screening test using a dried blood spot is positive for congenital adrenal hyperplasia (CAH).What laboratory testing would be done next?

Accepted Answer

A)  No next step as this test is the confirmatory analysis 
B)  DNA analysis of genetic mutation 
C)  A stimulating hormone test 
D)  A second-tier test for CAH,such as an MS/MS steroid profile 
A)  No next step as this test is the confirmatory analysis 
B)  DNA analysis of genetic mutation 
C)  A stimulating hormone test 
D)  A second-tier test for CAH,such as an MS/MS steroid profile

Question 16

A newborn infant is observed to have symptoms of poor feeding,vomiting,lethargy,and irritability.Screening tests reveal elevated ornithine and ammonia in the infant's blood.What type of disorder do these symptoms indicate?

Accepted Answer

A)  Disorder of fatty acid oxidation 
B)  Aminoacidopathy 
C)  Organic acidemia 
D)  Urea cycle disorder 
A)  Disorder of fatty acid oxidation 
B)  Aminoacidopathy 
C)  Organic acidemia 
D)  Urea cycle disorder

Question 17

Of the following,what is the inborn error of metabolism for alkaptonuria?

Accepted Answer

A)  Disorder of fatty acid oxidation 
B)  Aminoacidopathy 
C)  Organic acidemia 
D)  Disorder of carbohydrate metabolism 
A)  Disorder of fatty acid oxidation 
B)  Aminoacidopathy 
C)  Organic acidemia 
D)  Disorder of carbohydrate metabolism

Exam 45: Newborn Screening and Inborn Errors of Metabolism

Of the following,what is the inborn error of metabolism for propionic acidemia?

Newborn screening is considered a public health activity that aims to identify and treat possible deadly conditions early in an infant's life.Which one of the following characteristics must be met before a disease can be part of a screening program?

Hyperphenylalaninemia due to classic phenylketonuria (PKU)is accompanied by all the following except:

The disorder that is identified by increased serum carnitine and urine glutaric acid on newborn screening is:

Of the following,what is the inborn error of metabolism for maple syrup urine disease?

An autosomal recessive disorder:

Dietary restriction of foods containing the branched-chain amino acids is one of the treatments required for individuals with:

What is the advantage of tandem mass spectrometry (MS/MS)multiplex analysis?

What is the basic setup of a tandem mass spectrometry analyzer?

Of the following,what is the inborn error of metabolism for medium chain acyl-CoA dehydrogenase deficiency?

The disorder that is identified by increased serum carnitine and urine glutaric acid on newborn screening is characterized by dysfunctional metabolism of:

Of the following,what is the inborn error of metabolism for glycogen storage disease?

Of the following,what is the inborn error of metabolism for glutaric acidemia type 1?

An example of a confirmatory laboratory test used to verify a borderline abnormal newborn screening test result in an asymptomatic individual would be gas chromatography combined with mass spectrometry,particularly for organic acid analysis.

A newborn screening test using a dried blood spot is positive for congenital adrenal hyperplasia (CAH).What laboratory testing would be done next?

A newborn infant is observed to have symptoms of poor feeding,vomiting,lethargy,and irritability.Screening tests reveal elevated ornithine and ammonia in the infant's blood.What type of disorder do these symptoms indicate?

Of the following,what is the inborn error of metabolism for alkaptonuria?

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