Deck 26: Metabolic Disorders

Question 1

What is a common secondary consequence of metabolic defects?

A) ​bacterial infections
B) ​nutritional deficiencies
C) ​arthritis
D) cancer
E) ​autoimmune disorders

Answer 1

B

Question 2

What amino acid supplement used for metabolic disorders displays antiatherogenic, antioxidant, and immunomodulatory properties?

A) ​valine
B) ​isoleucine
C) ​leucine
D) ​tryptophan
E) arginine

Answer 2

E

Question 3

What occurs with the amino acid disorder homocystinuria?​

A) ​cysteine is unable to be converted to homocysteine
B) ​homocysteine is unable to be converted to cysteine
C) ​homocysteine is unable to be converted to lysine
D) ​homocysteine is unable to be converted to leucine
E) ​cysteine is unable to be converted to leucine

Answer 3

B

Question 4

What trisaccharide made of galactose, fructose and glucose cannot be digested by people?

A) carnitine
B) glucagon
C) ​raffinose
D) ​ ribose
E) ​ amylopectin

Question 5

How long are medium chain triglycerides?​

A) ​16 - 20 carbons in chain length
B) ​12 - 15 carbons in chain length
C) ​9 - 11 carbons in chain length
D) ​6 - 8 carbons in chain length
E) 4 - 5 carbons in chain length

Question 6

How are most inborn errors of metabolism acquired?

A) ​autosomal dominant inheritance
B) ​autosomal recessive inheritance
C) ​ infection
D) ​dietary deficiency
E) ​blood toxicity

Question 7

What is the affected amino acid in the metabolic disorder isovaleric acidemia?

A) ​valine
B) ​tryptophan
C) ​leucine
D) ​ isoleucine
E) ​arginine

Question 8

What is the term used to refer to the variation in the presentation of metabolic disorders?​

A) ​variant
B) ​genotype
C) ​haplotype
D) ​phenotype
E) degree

Question 9

What is a substrate needed for the normal metabolism of fat for energy?​

A) ​carnitine
B) ​glucagon 
C) ​raffinose
D) ​ ribose
E) ​ amylopectin

Question 10

What is the insoluble component of starch?​

A) ​carnitine
B) ​glucagon
C) ​raffinose
D) ​ribose
E) amylopectin

Question 11

What is a typical sign of an inborn error of metabolism that mothers quickly pick up on?​

A) ​baby smells funny
B) ​baby won't wake up
C) ​baby bleeds from the ears
D) ​baby yawns uncontrollably
E) ​baby makes high-pitched screeches

Question 12

Methylcrotonylglycinuria is a metabolic disorder of what branched-chain amino acid?

A) ​valine
B) ​isoleucine
C) ​leucine
D) ​tryptophan
E) ​arginine

Question 13

What is the affected amino acid in the metabolic condition homocystinuria?​

A) ​methionine
B) ​leucine
C) ​isoleucine
D) ​ phenylalanine
E) ​cysteine 

Question 14

How many metabolic disorders can be screened for at a time using tandem mass spectroscopy?​

A) ​110
B) ​over 80
C) ​58
D) ​over 30
E) ​ 15

Question 15

What is the affected amino acid in the metabolic condition phenylketonuria (PKU)?​

A) ​methionine
B) ​leucine
C) ​isoleucine
D) ​phenylalanine
E) ​cysteine 

Question 16

What is the most common amino acid disorder?​

A) ​homocystinuria
B) ​phenylketonuria
C) ​tyrosinemia
D) ​isovaleric acidemia
E) ​maple syrup urine disease

Question 17

Vitamin-responsive forms of methylmalonic acidemia are treated with pharmacological amounts of what vitamin?​

A) ​biotin
B) ​B12
C) ​B6
D) ​ riboflavin
E) thiamin

Question 18

People with PKU can have a musty or mousy smell due to phenylketones accumulating where?​

A) ​breath
B) ​sweat
C) ​ear wax
D) ​ feces
E) ​urine

Question 19

What is the targeted blood Phe range, as recommended in the new ACMG guidelines, for all individuals with PKU?​

A) ​20-30 μmol/L
B) ​65-105 μmol/L
C) ​120-360 μmol/L
D) ​400-600 μmol/L
E) ​650-820 μmol/L

Question 20

What is a common neurologic sign of inborn errors of metabolism in neonates?​

A) ​seizures
B) ​hyperpnea
C) ​tachypnea
D) ​vomiting
E) ​ectopialentis

Question 21

What type of vegetable oil contains the most linolenic acid?​

A) ​flaxseed
B) ​safflower
C) ​corn
D) ​peanut
E) ​olive

Question 22

What type of fatty acids are linoleic and linolenic acids?

A) ​short-chain
B) ​medium-chain
C) ​long-chain
D) ​very long-chain
E) ​polysaccharide

Question 23

What is the highest total amount of phenylalanine that PD should consume during any single day?

A) ​168.5
B) ​246 mg
C) ​304.5 mg
D) ​391 mg
E) ​451.5 mg

Question 24

What are PD's daily caloric needs?

A) ​1,151 kcal
B) ​1,022 kcal
C) ​986 kcal
D) ​914 kcal
E) ​845 kcal

Question 25

In holocarboxylase synthetase deficiency, what vitamin supplement is used as treatment and to prevent serious complications?​

A) ​thiamin
B) ​riboflavin
C) ​ biotin
D) ​niacin
E) ​folic acid

Question 26

What is the most predominant type of mitochondrial disorders?​

A) ​fatty acid transport disorders
B) fatty acid oxidation defects
C) ​glycogen complex disorders
D) ​respiratory chain disorders
E) ​pyruvate complex disorders

Question 27

What type of glycogen storage disease causes a muscle phosphorylase deficiency?​

A) ​type II
B) ​type III
C) ​type IV
D) ​type V
E) ​type VI

Question 28

Fructose-induced hypoglycemia results from inhibition of gluconeogenesis and what other process?​

A) ​glucogenesis
B) ​glycogenesis
C) ​the chaperoning effect
D) ​glycolysis
E) ​glycogenolysis

Question 29

How many enzymes are needed to convert fructose into intermediates of the glycolytic gluconeogenic pathway?
​

A) ​1
B) ​2
C) ​3
D) ​4
E) ​5

Question 30

What are PD's daily protein needs?

A) ​about 32 g
B) ​30.6 g
C) ​about 29 g
D) ​27.8 g
E) ​about 24 g

Question 31

For hereditary fructose intolerance, treatment includes dietary restriction of fructose, sucrose, and what other compound?​

A) ​glucose
B) ​galactose
C) ​aspartame
D) ​stevia
E) ​sorbitol

Question 32

Toxicity is not a concern when megavitamin doses of what vitamins are used?​

A) ​antioxidants
B) ​metabolic cofactors
C) ​electron acceptors 
D) ​fat soluble
E) ​water soluble

Question 33

In addition to classic galactosemia, what are two variants of the disease?​

A) ​Duarte and Black
B) ​variant I and variant II
C) ​Edwards and Jackson
D) ​dairy and fruit
E) ​secondary and tertiary

Question 34

What is the function of riboflavin and thiamin in the respiratory chain?

A) ​antioxidants
B) ​cofactors
C) ​artificial electron receptors
D) ​artificial electron transporters
E) ​ antivirals

Question 35

What type of vegetable oil contains the most linoleic acid?

A) ​flaxseed
B) ​safflower
C) ​corn
D) ​peanut
E) ​olive

Question 36

People from what region seem to have much less incidence of fat metabolism disorders?​

A) ​Africa
B) ​Asia
C) ​Europe
D) ​United States
E) ​ Australia

Question 37

Phe restriction should achieve optimal blood Phe levels of:

A) ​20-30 μmol/L
B) ​65-105 μmol/L
C) ​120-360 μmol/L
D) ​400-600 μmol/L
E) ​650-820 μmol/L

Question 38

What is the predominant dietary source of galactose?​

A) ​fructose from fruit
B) ​lactose from milk
C) ​glucose from honey
D) ​glycogen from meat
E) ​fiber from vegetables

Question 39

What are two common PKU characteristics that PD's mom likely noticed in her son?

A) ​very light complexion and musty smelling urine
B) ​dark skin pigmentation and foul breath
C) ​bowed legs and high pitched screeching
D) ​bloody diarrhea and muscle paralysis
E) ​severe insomnia and fatty stool

Question 40

What is the affected amino acid in the metabolic disorder 3-hydroxyisobutyric aciduria?​

A) ​valine
B) ​tryptophan
C) ​ leucine
D) ​ isoleucine
E) ​arginine

Question 41

Urea cycle disorders result in an impaired capacity of the body to excrete nitrogen in the form of urea.

Question 42

While certain amino acids may be restricted in individuals with inborn errors of metabolism, essential nutrients, such as proteins, cannot be restricted over a prolonged period as the body will become ________________ if deprived for an extended period of time.

Question 43

Additional amounts of cofactor can provide for a chaperoning effect where the cofactor helps to stabilize the enzyme complex, allowing for an increase in enzyme activity.

Question 44

Isovaleric acidemia (IVA) is an amino acid disorder affecting the metabolism of multiple amino acids.

Question 45

_______________ is used to remove and detoxify waste products that accumulate in organic acid disorders affecting the metabolism of proteins, carbohydrates, and/or fats.

Question 46

The genetic defect in phenylalanine hydroxylase leads to a reduction in or an absence of phenylalanine hydroxylase activity.

Question 47

The detection of inborn errors of metabolism is complicated by the fact that many symptoms are non-specific and can be similar from one inborn error of metabolism to the next.

Question 48

Neonates with a metabolic disorder generally show acute central nervous system symptoms, including generalized or partial _______________.

Question 49

Tandem _______________ allows clinicians to screen for over 30 metabolic disorders by analyzing metabolites in a blood spot collected on a filter paper from a simple heel prick on the newborn.

Question 50

In an autosomal recessive disorder, carrier parents have a _______________ percent chance of having an affected child with each pregnancy.

Question 51

Selective neonatal screening is the testing of an individual known to be at increased risk for a _______________ disorder.

Question 52

Skin lymphocytes or peripheral blood fibroblasts can be used to determine the extent of enzymatic activity present.

Question 53

Impaired metabolism of nutrients can be caused by a defective gene that results in a change to the binding site of cofactors.

Question 54

Untreated _______________ can cause neurologic abnormalities.

Question 55

Because galactose is a monosaccharide found in milk products, galactosemia may be rapidly fatal in infants if milk feedings are not discontinued.

Question 56

The deficiency or absence of the phenylalanine _______________ enzyme leads to the inability to convert the essential amino acid phenylalanine into the amino acid _______________.

Question 57

Fatty acids must be taken into the mitochondria using the leucine transport system.

Question 58

In glycogen storage disease type III, protein is used as an alternative source of glucose production, via the _______________ shunt.

Question 59

Enzymatic precursors can accumulate as a direct result of a block or as a result of impaired _______________ related to the inability to produce the end substrate.

Question 60

Mitochondria are found in every cell in the human body.

Question 61

Explain how fructose is normally metabolized.

Question 62

Describe the etiology of urea cycle disorders.

Question 63

Describe how clinicians screen for multiple metabolic disorders in infants.

Question 64

Describe supplementation of end products as an approach for chronic management of metabolic disorders and provide a specific example.

Question 65

Mitochondria are essential for the production of _______________ in all types of tissues.

Question 66

The urea cycle resides primarily in the _______________, but this process can also take place to a lesser extent in the kidneys and small intestine.

Question 67

Once inside the mitochondria, the process of beta-oxidation is used to convert the fatty acids to _______________.

Question 68

Carnitine is usually supplemented if the amount of free carnitine is _______________ and/or the ratio of esterified to free carnitine is _______________.

Question 69

In patients with galactosemia, the enzyme defect occurs in uridyltransferase, which normally converts galactose, in the form of galactose-1-phosphate, to _______________ -1-phosphate.

Question 70

Describe the acute nutritional interventions used for disorders of fat metabolism.

Question 71

Sapropterindi hydrochloride is an oral formulation of the biologically active tetrahydrobiopterin, cofactor to the _______________ hydroxylase enzyme.

Question 72

Describe the acute nutritional interventions used for urea cycle disorders.

Question 73

With the exception of ornithine transcarbamylase (OTC) deficiency, all urea cycle disorders have a(n)_______________ recessive mode of inheritance.

Question 74

Describe the use and benefits of sapropterin dihydrochloride.

Question 75

Define the alanine shunt and in what disease it is used.

Question 76

Organic acidemias are a subset of _______________ disorders that involve a dysfunction in the metabolism of intermediary products.

Question 77

A pharmacologic dose of vitamin B12 is given to a newly diagnosed patient with _______________ acidemia to determine whether the enzymatic defect is vitamin responsive.

Question 78

Describe the causes, symptoms and incidence of galactosemia.

Question 79

Discuss the epidemiology of amino acidopathies.

Question 80

Some of the galactose in fruits and vegetables may be found as the galactose _______________, raffinose and stachyose, and hence is most likely unavailable for absorption.