Question 1

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

Accepted Answer

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 
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 2

Case Study
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?

Accepted Answer

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

Question 3

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

Accepted Answer

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

Question 4

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

Accepted Answer

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 
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 5

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

Accepted Answer

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

Question 6

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

Accepted Answer

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

Question 7

Case Study
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?

Accepted Answer

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

Question 8

Case Study
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

Accepted Answer

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

Question 9

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

Accepted Answer

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. 
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 10

Case Study
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

Accepted Answer

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

Question 11

The urea cycle resides primarily in the:

Accepted Answer

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

Question 12

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

Accepted Answer

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

Question 13

The treatment of an amino acid disorder involves:

Accepted Answer

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. 
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 14

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

Accepted Answer

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

Question 15

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:

Accepted Answer

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

Question 16

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

Accepted Answer

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

Question 17

Case Study
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?

Accepted Answer

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

Question 18

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

Accepted Answer

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

Exam 26: Metabolic Disorders

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

Case Study 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?

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

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

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

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

Case Study 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?

Case Study 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

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

Case Study 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

The urea cycle resides primarily in the:

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

The treatment of an amino acid disorder involves:

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

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:

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

Case Study 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?

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

Role of the Dietitian in the Health Care System

The Nutrition Care Process

Nutrition Assessment: Foundation of the Nutrition Care Process

Nutrition Intervention

Enteral and Parenteral Nutrition Support

Documentation of the Nutrition Care Process

Fluid and Electrolyte Balance

Acid-Base Balance

Cellular and Physiological Response to Injury:The Role of the Immune System

Nutritional Genomics

Pharmacology

Energy Balance and Body Weight

Diseases of the Cardiovascular System

Diseases of the Upper Gastrointestinal Tract

Diseases of the Lower Gastrointestinal Tract

Diseases of the Liver, Gallbladder, and Exocrine Pancreas

Diseases of the Endocrine System

Diseases of the Renal System

Diseases of the Hematological System

Diseases and Disorders of the Neurological System

Diseases of the Respiratory System

Metabolic Stress and the Critically Ill

Neoplastic Disease

Hiv and Aids

Diseases of the Musculoskeletal System

Filters

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