Deck 26: Metabolic Disorders

Question 1

Which of the following amino acids becomes conditionally essential for those with urea cycle disorders, and thus should be supplemented in their diet?

A)valine
B)arginine
C)alanine
D)histidine

Answer 1

B

Question 2

Approximately one out of every _____ children born will have an inborn error of metabolism

A)100
B)2,500
C)5,000
D)10,000

Answer 2

B

Question 3

Urea cycle disorders result from an impaired capacity of the body to excrete _____ in the form of urea

A)carbon
B)nitrogen
C)organic acids
D)uric acid

Answer 3

B

Question 4

Which metabolic disorder is tested and screened for in newborns in all 50 US states?

A)glycogen storage disease
B)tyrosinemia
C)fructose intolerance
D)phenylketonuria

Question 5

Which of the following is not a result of untreated PKU?

A)mental retardation
B)seizures
C)eczema
D)obesity

Question 6

With autosomal recessive inheritance, what is the probability that carrier parents will have an affected child with each pregnancy?

A)0%
B)25%
C)50%
D)100%

Question 7

In galactosemia the defective enzyme, uridyltransferase, is responsible for converting _____

A)galactose to glucose-6-phosphate
B)galactose-1-phosphate to glucose-1-phosphate
C)glucose-6-phosphate to fructose-6-phosphate
D)galactose to galactitol

Question 8

For best utilization of synthetic amino acids, one should:

A)consume large quantities 1 to 2 times per day.
B)consume smaller quantities 4 to 5 times per day.
C)consume 1 large quantity right before sleeping.
D)consume 1 large quantity right upon awakening.

Question 9

The urea cycle resides primarily in the:

A)small intestine.
B)kidney.
C)red blood cells.
D)hepatocytes.

Question 10

In glycogen storage disease type I, the enzyme block results in an inability to produce:

A)glycogen.
B)galactose.
C)glucose.
D)fructose.

Question 11

Which of the following is not an example of selective neonatal screening?

A)testing of all infants in a population
B)confirmatory testing of a positive neonatal screening
C)testing siblings of child diagnosed with an inborn error of metabolism
D)testing a child whose family has a history of inborn errors of metabolism

Question 12

A block in the urea cycle can result from a deficiency in any of these enzymes except:

A)glucokinase.
B)carbamyl phosphate synthetase I.
C)arginase.
D)argininosuccinic acid lyase.

Question 13

In order for individuals with PKU to obtain the necessary amount of protein that they need to promote adequate growth, they are required to:

A)supplement their diet with capsules containing all the amino acids.
B)consume a protein supplement containing at least 50 grams of protein a day.
C)consume a protein supplement containing all the amino acids except for phenylalanine.
D)consume meats and beans at least twice a day.

Question 14

Glycogen storage disease type I is due to a deficiency of the _____ enzyme, which results in _____

A)glucose-6-phosphatase, hyperglycemia
B)glucose-6-phosphatase, hypoglycemia
C)glucokinase, hypoglycemia
D)glucokinase, hyperglycemia

Question 15

In phenylketonuria, the deficiency or absence of the phenylalanine hydroxylase enzyme leads to into the inability to convert phenylalanine into which amino acid?

A)alanine
B)tryptophan
C)valine
D)tyrosine

Question 16

The etiology of inborn errors of metabolism can best be described as:

A)a lack of enzymes.
B)a lack of substrates.
C)a genetic error in metabolic flow.
D)defective transport of amino acids.

Question 17

The treatment of an amino acid disorder involves:

A)ceasing completely the ingestion of proteins.
B)restricting dietary protein intake.
C)maintaining normal dietary servings of protein.
D)increasing protein content due to a lack of amino acid absorption.

Question 18

Which of the following nutrients are individuals with galactosemia most likely to be deficient in?

A)calcium and vitamin D
B)phosphorus and vitamin A
C)vitamin D and phosphorous
D)magnesium and calcium

Question 19

Which of the following urea cycle enzyme deficiencies is inherited as an X-linked dominant trait that is usually lethal in males?

A)argininosuccinic acid synthase
B)carbamyl phosphate synthase I
C)ornithine transcarbamylase
D)arginase

Question 20

Those with fructose intolerance should avoid which of the following sugars?

A)fructose, sucrose, and sorbitol
B)fructose, glucose, and malitol
C)frucotse, sucrose, and zylitol
D)fructose, raffinose, and glucose

Question 21

Those with glycogen storage disease are at highest risk of dying from:

A)failure to thrive.
B)renal failure.
C)liver adenma.
D)hypoglycemia.

Question 22

Case Study Multiple Choice
GF is a 10-month-old infant with a urea cycle disorder.GF is admitted into the hospital due to a hyperammonemic crisis.
LT: 25.5 inches WT: 16.5 #
Because of the nature of this disorder, the registered dietitian will provide which amino acid supplement?

A)arginine
B)glutamine
C)tyrosine
D)leucine

Question 23

PD is an 11-month-old M with phenylketonuria.His mother brought him in to visit you at an outpatient nutrition center in the local pediatric hospital.
LT: 28 inches WT: 8.7 kg
Which of the following is the highest amount (mg) of phenylalanine that PD should consume during any single day?

A)304.5 mg
B)87 mg
C)391.5 mg
D)609 mg

Question 24

Treatment for GSD I involves administering 1 to 2 grams/kg _____ every 3 to 6 hours to help maintain glucose levels

A)syrup
B)cornstarch
C)juice
D)Gatorade

Question 25

Case Study Multiple Choice
GF is a 10-month-old infant with a urea cycle disorder.GF is admitted into the hospital due to a hyperammonemic crisis.
LT: 25.5 inches WT: 16.5 #
The registered dietitian will also recommend which mineral supplement?

A)vitamin A
B)selenium
C)zinc
D)calcium

Question 26

The suggested therapy for glycogen storage disease type I is to:

A)limit glucose intake.
B)limit galactose intake.
C)provide a continuous source of glucose through frequent feedings.
D)provide a continuous source of galactose through frequent feedings.

Question 27

PD is an 11-month-old M with phenylketonuria.His mother brought him in to visit you at an outpatient nutrition center in the local pediatric hospital.
LT: 28 inches WT: 8.7 kg
Should PD's mom not be compliant with her diet, PD could potentially develop all of the following except:

A)mental retardation.
B)seizures.
C)tyrosine deficiency.
D)eczema.

Question 28

PD is an 11-month-old M with phenylketonuria.His mother brought him in to visit you at an outpatient nutrition center in the local pediatric hospital.
LT: 28 inches WT: 8.7 kg
Calculate PD's daily protein needs

A)27.8 g
B)26.1 g
C)30.45 g
D)25 g

Question 29

PD is an 11-month-old M with phenylketonuria.His mother brought him in to visit you at an outpatient nutrition center in the local pediatric hospital.
LT: 28 inches WT: 8.7 kg
Calculate PD's daily fluid needs

A)1392 mL
B)1262 mL
C)1175 mL
D)1255 mL

Question 30

PD is an 11-month-old M with phenylketonuria.His mother brought him in to visit you at an outpatient nutrition center in the local pediatric hospital.
LT: 28 inches WT: 8.7 kg
This Phe restriction should achieve optimal blood Phe levels of:

A)120-900 umol/L.
B)120-360 umol/L.
C)500-900 umol/L.
D)750-900 umol/L.

Question 31

Case Study Multiple Choice
GF is a 10-month-old infant with a urea cycle disorder.GF is admitted into the hospital due to a hyperammonemic crisis.
LT: 25.5 inches WT: 16.5 #
Calculate GF's daily protein needs

A)7.5 g
B)9 g
C)10.5 g
D)15 g

Question 32

Case Study Multiple Choice
GF is a 10-month-old infant with a urea cycle disorder.GF is admitted into the hospital due to a hyperammonemic crisis.
LT: 25.5 inches WT: 16.5 #
The registered dietitian will aim for how much of the above quantity to be provided as essential amino acids?

A)10-20%
B)25-50%
C)20-45%
D)50-60%

Question 33

Case Study Multiple Choice
GF is a 10-month-old infant with a urea cycle disorder.GF is admitted into the hospital due to a hyperammonemic crisis.
LT: 25.5 inches WT: 16.5 #
The registered dietitian is going to recommend complete restriction of _____ while medical management of the condition begins

A)carbohydrates
B)fat
C)arginine
D)protein

Question 34

PD is an 11-month-old M with phenylketonuria.His mother brought him in to visit you at an outpatient nutrition center in the local pediatric hospital.
LT: 28 inches WT: 8.7 kg
Calculate PD's daily kcalorie needs

A)1205 kcal
B)914 kcal
C)957 kcal
D)1044 kcal

Question 35

The main nutrient intervention for a fat metabolism disorder is to:

A)prevent fasting.
B)increase intake of fatty acids.
C)continue with a liberal diet.
D)consume complex carbohydrates.

Question 36

Case Study Multiple Choice
GF is a 10-month-old infant with a urea cycle disorder.GF is admitted into the hospital due to a hyperammonemic crisis.
LT: 25.5 inches WT: 16.5 #
After the first 24-48 hours, the registered dietitian is going to prescribe PN He/she should work with the pharmacy to ensure that the PN solution is high in:

A)aromatic amino acids.
B)branched-chain amino acids.
C)tyrosine.
D)omega-3 fatty acids.

Question 37

Which of the following is one of the appropriate dietary interventions for GSD I?

A)avoidance of fructose and lactose
B)limiting amino acid intake
C)increasing fat
D)decreasing complex carbohydrates