Question 1

Which of the following metabolic disorders is NOT a disorder of carbohydrate metabolism?&#10;A)Hereditary glucose intolerance&#10;B)Glycogen storage disease&#10;C)Galactosemia&#10;D)Fructose 1,6-diphosphatase deficiency

Accepted Answer

Hereditary glucose intolerance is not a known metabolic disorder.Carbohydrate metabolism disorders include hereditary fructose intolerance, galactosemia, fructose 1,6-disphosphatase deficiency, and the various glycogen storage diseases.

Question 2

An appropriate description of a metabolic disorder is an autosomal recessive disorder that&#10;A)involves amino acids.&#10;B)results in the reduced activity or absence of a specific enzyme.&#10;C)occurs because the body cannot use dietary amino acids, fatty acids, or monosaccharides.&#10;D)results in the buildup of metabolites in the blood, urine, or both.

Accepted Answer

Genetic metabolic disorders are mostly autosomal recessive inherited disorders that affect metabolic processes in the body through the absence or reduced activity of specific enzymes.In these metabolic disorders, body functions may become impaired by buildup of certain proteins that did not undergo conversion because of deficiency of the enzyme or lack of the end product of metabolism because of the missing enzyme.

Question 3

For infants and children younger than 10 years of age with PKU, which amino acid has to be supplemented in the diet?&#10;A)Cysteine&#10;B)Methionine&#10;C)Phenylalanine&#10;D)Tyrosine

Accepted Answer

In PKU, as the conversion of phenylalanine to tyrosine is blocked, infants and children have to receive supplemental tyrosine to ensure adequate growth.Usually, the extra tyrosine is provided in specialty formula products that have no phenylalanine.Cysteine and methionine are the sulfur-containing amino acids, and intake needs of each depend on the intake and metabolism of the other.

Question 4

Which of the following is used in the nutritional management of patients with glycogen storage disease?&#10;A)Oral intake of cornstarch&#10;B)Small, frequent high-protein meals&#10;C)Severe restriction of all carbohydrates&#10;D)Three well-balanced meals a day

Accepted Answer

Because patients with glycogen storage disease develop no provisional carbohydrate stores, they run the risk of developing hypoglycemia.Therefore, the provision of a high-carbohydrate, low-fat diet with intake of raw cornstarch at regular intervals throughout the day is used to prevent hypoglycemia.Carbohydrate feedings must occur throughout the day and should not be distributed to only three eating episodes or restricted.

Question 5

Which of the following metabolic disorders is NOT treated with a low-protein diet?&#10;A)Argininemia&#10;B)Methylmalonic acidemia&#10;C)Ketone-use disorder&#10;D)Galactosemia

Accepted Answer

Galactosemia is a disorder of carbohydrate metabolism, and although galactose is only available in the diet through dairy products, these are the only protein sources that need to be avoided.Argininemia is a urea cycle disorder, and as with all urea cycle disorders, a protein-restricted diet is necessary in treatment.Methylmalonic acidemia and ketone use disorder are both organic acidemia disorders.Patients with these disorders are treated with protein restriction because protein contributes more acids to the body than carbohydrates and fats.

Question 6

Which fatty acid oxidation disorder is the most common?&#10;A)Short-chain acyl-CoA dehydrogenase deficiency&#10;B)Medium-chain acyl-CoA dehydrogenase deficiency&#10;C)Long-chain acyl-CoA dehydrogenase deficiency&#10;D)Long-chain 3-hydroxy acyl-CoA dehydrogenase deficiency

Accepted Answer

Whereas most fatty acid oxidation disorders are considered to be rare in prevalence, medium-chain acyl-CoA dehydrogenase deficiency occurs at a rate of one in 20,000.All fatty acid oxidation disorders present with vomiting, lethargy, and hypoglycemia.Patients with these disorders are generally treated with low-fat diet and carnitine diet.The diet is particularly low in the particular type of fatty acid.Additionally, fasting is limited so as not to stimulate increased mobilization of fatty acids from adipose stores.

Question 7

The current preferred method for screening for inborn errors of metabolism is&#10;A)microarray technology.&#10;B)tandem mass spectrometry.&#10;C)Guthrie bacterial inhibition assay.&#10;D)enzyme-linked immunosorbent assay.

Accepted Answer

Tandem mass spectrometry was developed in the 1990s and can screen for 30 or more disorders that affect newborns.Microarray technology is used to measure gene expression, which is useful in nutrigenomics but is too costly to use as a widespread screening methodology.The Guthrie bacterial inhibition assay was developed in the 1960s and became the basis for newborn screening.ELISA is used in immunologic testing.

Question 8

Which of the following foods would be allowed in the diet of a child with PKU?&#10;A)Peanut butter and jelly sandwich&#10;B)Sugar-free gum&#10;C)Potato chips&#10;D)Spaghetti and meatballs

Accepted Answer

Children with PKU should be provided with foods with low-protein content because these also have low phenylalanine content.Potato chips provide relatively no phenylalanine.High-protein foods such as dairy foods, meats, and peanut butter provide too much phenylalanine.Also, regular breads, pastas, and baked goods may be too high in phenylalanine.Low-protein versions of these foods are available from specialty sources.Aspartame is the sweetener that is commonly used in sugar-free and diet products; however, because aspartame contains phenylalanine, these foods should be avoided in the diet of a child with PKU.

Question 9

Beyond fatty acid oxidation disorders, which other metabolic disorder is treated with supplemental carnitine?&#10;A)Isovaleric acidemia&#10;B)Ketone utilization disorder&#10;C)Ornithine transcarbamylase deficiency&#10;D)Tyrosinemia

Accepted Answer

Ketone utilization disorder affects the metabolism of ketones; however, the provision of carnitine can help promote transport of fatty acids into the mitochondria and thus promote a decrease in ketone production.Patients with isovaleric acidemia, ornithine transcarbamylase deficiency, and tyrosinemia are all be treated with protein restriction.In the case of tyrosinemia, this restriction would focus on tyrosine.

Question 10

Which of the following metabolic disorders is NOT classified as an organic acidemia?&#10;A)Methylmalonic metabolic disorder&#10;B)Propionic metabolic disorder&#10;C)Isovaleric metabolic disorder&#10;D)Arginosuccinic aciduria

Accepted Answer

Arginosuccinic aciduria is a urea cycle disorder that results in arginine deficiency.Methylmalonic metabolic disorder and propionic disorder promote the development of metabolic acidosis through the accumulation of organic acids.Isovaleric disorder is also an organic acidemia; however, this disorder can produce metabolic ketoacidosis.

Question 11

Which of the following will NOT result in the development of phenylketonuria?&#10;A)Deficiency in phenylalanine hydroxylase&#10;B)Deficiency in dihydropteridine reductase&#10;C)Insufficient synthesis of biopterin&#10;D)Insufficiency of dietary tyrosine

Accepted Answer

The answer of Which of the following will NOT result...

Question 12

Which of the following is NOT one of the possible infant outcomes of PKU mothers with elevated phenylalanine levels?&#10;A)Liver dysfunction&#10;B)Microcephaly&#10;C)Congenital heart disease&#10;D)Low birth weight

Accepted Answer

The answer of Which of the following is NOT one...

Question 13

Which of the following conversions is defective in galactosemia?&#10;A)Glucose to galactose&#10;B)Galactose to glucose&#10;C)Lactose to galactose&#10;D)Galactose to lactose

Accepted Answer

The answer of Which of the following conversions is defective...

Question 14

Which of the following is the deficient enzyme in glycogen storage disease Ia (GSD Ia)?&#10;A)Glucose-1,6-phosphatase&#10;B)Fructose-1,6-diphosphatase&#10;C)Fructose-1-phosphate aldolase&#10;D)Hexokinase

Accepted Answer

The answer of Which of the following is the deficient...

Question 15

Which of the following is reduced in the diet in the treatment of maple syrup urine disease (MSUD)?&#10;A)Fructose&#10;B)Aromatic amino acids&#10;C)Branched-chain amino acids&#10;D)Sulfur-containing amino acids

Accepted Answer

The answer of Which of the following is reduced in...

Question 16

Which of the following is NOT one of the nutritional treatments that would be provided to patients with metabolic disorders?&#10;A)Restrict the amount of a specific substrate (nutrient) in the diet.&#10;B)Supplement the diet with a greater amount of a &#34;safe&#34; product of metabolism.&#10;C)Replace the defective enzyme through the diet.&#10;D)Supplement the defective enzyme cofactor.

Accepted Answer

The answer of Which of the following is NOT one...

Question 17

The metabolic result that occurs in all of the urea cycle disorders is an accumulation of _____ in the blood.&#10;A)ammonia&#10;B)purines&#10;C)ketones&#10;D)ketoacid

Accepted Answer

The answer of The metabolic result that occurs in all...

Question 18

The desirable range for blood phenylalanine in a child with PKU is _____ mg/dL.&#10;A)2 to 6&#10;B)6 to 10&#10;C)8 to 12&#10;D)10 to 20

Accepted Answer

The answer of The desirable range for blood phenylalanine in...

Question 19

Which of the following is NOT one of the enzyme deficiencies associated with urea cycle disorders?&#10;A)Ornithine transcarbamylase&#10;B)HMG-CoA reductase&#10;C)Carbamyl-phosphate synthetase&#10;D)Arginase

Accepted Answer

The answer of Which of the following is NOT one...

Question 20

Which of the following fruits and vegetables would be allowed in the diet of a person with galactosemia?&#10;A)Bell peppers&#10;B)Watermelon&#10;C)Raisins&#10;D)Tomatoes

Accepted Answer

The answer of Which of the following fruits and vegetables...

Deck 44: Medical and Nutrition Therapy for Genetic Metabolic Disorders