Comprehensive Exam Study Guide Covering Chapter 26 - Metabolic Disorders. Latest Updated 2026/2027 Guide

Chapter 26 - Metabolic Disorders
1. How are most inborn errors of metabolism acquired?
a. autosomal dominant inheritance
b. autosomal recessive inheritance
c. infection
d. dietary deficiency
e. blood toxicity
ANSWER: b
DIFFICULTY: Bloom’s Remember
REFERENCES: Epidemiology and Inheritance

2. 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
ANSWER: d
DIFFICULTY: Bloom’s Remember
REFERENCES: Epidemiology and Inheritance

3. What is the insoluble component of starch?
a. carnitine
b. glucagon
c. raffinose
d. ribose
e. amylopectin
ANSWER: e
DIFFICULTY: Bloom’s Remember
REFERENCES: Glossary

4. What trisaccharide made of galactose, fructose and glucose cannot be digested by people?
a. carnitine
b. glucagon
c. raffinose
d. ribose
e. amylopectin
ANSWER: c
DIFFICULTY: Bloom’s Remember
REFERENCES: Glossary

5. What is a substrate needed for the normal metabolism of fat for energy?
a. carnitine
b. glucagon
c. raffinose
d. ribose

,Chapter 26 - Metabolic Disorders

e. amylopectin
ANSWER: a
DIFFICULTY: Bloom’s Remember
REFERENCES: Glossary

6. What is a common secondary consequence of metabolic defects?
a. bacterial infections
b. nutritional deficiencies
c. arthritis
d. cancer
e. autoimmune disorders
ANSWER: b
DIFFICULTY: Bloom’sRemember
REFERENCES: Pathophysiology of Impaired Metabolism

7. 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
ANSWER: d
DIFFICULTY: Bloom’s Remember
REFERENCES: Medical Diagnosis/Newborn Screening

8. Methylcrotonylglycinuria is a metabolic disorder of what branched-chain amino acid?
a. valine
b. isoleucine
c. leucine
d. tryptophan
e. arginine
ANSWER: c
DIFFICULTY: Bloom’s Remember
REFERENCES: Medical Diagnosis/Newborn Screening

9. What is a common neurologic sign of inborn errors of metabolism in neonates?
a. seizures
b. hyperpnea
c. tachypnea
d. vomiting
e. ectopialentis
ANSWER: a
DIFFICULTY: Bloom’s Remember
REFERENCES: Clinical Manifestations of Inborn Errors of Metabolism

, Chapter 26 - Metabolic Disorders
10. 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
ANSWER: a
DIFFICULTY: Bloom’s Remember
REFERENCES: Clinical Manifestations of Inborn Errors of Metabolism

11. 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: e
DIFFICULTY: Bloom’s Remember
REFERENCES: Nutrition Therapy for Inborn Errors of Metabolism: General Guidelines

12. 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: b
DIFFICULTY: Bloom’s Remember
REFERENCES: Nutrition Therapy for Inborn Errors of Metabolism: General Guidelines

13. 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
ANSWER: d
DIFFICULTY: Bloom’s Remember
REFERENCES: Nutrition Therapy for Inborn Errors of Metabolism: General Guidelines

14. Vitamin-responsive forms of methylmalonic acidemia are treated with pharmacological amounts of what vitamin?
a. biotin
b. B12
c. B6