Question 1

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 disorderE) A) and B)
F) A) and C)

Question 2

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.E) None of the above
F) A) and B)

Question 3

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 profileE) A) and C)
F) All of the above

Question 4

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.E) A) and B)
F) A) and C)

Question 5

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 metabolismE) A) and C)
F) B) and C)

Question 6

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.E) A) and D)
F) B) and C) A

Question 7

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 metabolismE) A) and B)
F) B) and C) B

Question 8

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 9

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.E) A) and B)
F) All of the above B

Question 10

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 metabolismE) A) and D)
F) None of the above

Question 11

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.E) A) and B)
F) B) and C)

Question 12

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 metabolismE) B) and D)
F) None of the above

Question 13

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.E) All of the above
F) B) and D)

Question 14

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 metabolismE) A) and B)
F) C) and D)

Question 15

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 metabolismE) A) and B)
F) B) and D)

Question 16

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.E) A) and B)
F) A) and C)

Question 17

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.E) C) and D)
F) All of the above

Exam 45: Newborn Screening and Inborn Errors of Metabolism

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?

Correct Answer
verified

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

Correct Answer
verified

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

Correct Answer
verified

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

Correct Answer
verified

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

Correct Answer
verified

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

Correct Answer
verified
A

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

Correct Answer
verified
B

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.

Correct Answer
verified

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?

Correct Answer
verified
B

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

Correct Answer
verified

An autosomal recessive disorder:

Correct Answer
verified

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

Correct Answer
verified

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

Correct Answer
verified

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

Correct Answer
verified

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

Correct Answer
verified

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

Correct Answer
verified

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

Correct Answer
verified

Exam 45: Newborn Screening and Inborn Errors of Metabolism

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?

Correct AnswerverifiedShow Answer

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

Correct AnswerverifiedShow Answer

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

Correct AnswerverifiedShow Answer

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

Correct AnswerverifiedShow Answer

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

Correct AnswerverifiedShow Answer

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

Correct AnswerverifiedA

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

Correct AnswerverifiedB

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.

Correct AnswerverifiedShow Answer

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?

Correct AnswerverifiedB

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

Correct AnswerverifiedShow Answer

An autosomal recessive disorder:

Correct AnswerverifiedShow Answer

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

Correct AnswerverifiedShow Answer

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

Correct AnswerverifiedShow Answer

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

Correct AnswerverifiedShow Answer

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

Correct AnswerverifiedShow Answer

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

Correct AnswerverifiedShow Answer

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

Correct AnswerverifiedShow Answer

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A

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B

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B

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