Which technique is best to separate oxygenated normal HbA from oxygenated sickle cell hemoglobin (HbS) (assuming no protein aggregation) from a patient coming into a clinic?
A. Native gel electrophoresis.
B. Spectrophotometry.
C. Gel filtration.
D. Affinity chromatography with a C-terminal antibody.
E. Ultracentrifugation.
A 5-month-old infant presents with spasticity and seizures. On exam, the infant is found to be hypertonic (excessive muscle tone) and hyper-reflexic (excessive reflex response). β-galactosidase levels are found to be abnormally low, and he is diagnosed with Krabbe disease. This disease causes accumulation in cells:
A. Glycoproteins.
B. Sphingolipids.
C. Ketone bodies.
D. Phosphoproteins.
E. Triacylglycerols.
What changes in biochemical indexes are not result of violations of phenylalanine and tyrosine metabolism?
A. Phenylketonuria.
B. Tyrosinosis.
C. Indicanuria.
D. Albinism.
E. Alkaptonuria.
A newborn is experiencing failure to thrive. On physical exam, organomegaly is appreciated due to accumulation ot glycogen in the lysosomes of several organs, including the heart, muscle, and liver. You diagnose the patient with Pompe disease. Which of the following biochemical deficits are seen in this disorder?
A. Glycogenin deficiency
B. An α-1,6-glucosidase deficiency
C. A glucose 6-phosphatase deficiency
D. A glycogen phosphorylase enzyme deficiency
E. A lysosomal glucosidase deficiency
A 24-year-old student is training for the track and field events at her college. She presents to her physician with complaints of severe muscle cramps and weakness when training. Muscle biopsy demonstrates glycogen accumulation, but liver biopsy is unremarkable. Which of the following is the most likely diagnosis?
A. Andersen disease
B. Cori disease
C. McArdle disease
D. von Gierke disease
E. Hers disease
A 14-day-old neonate fails to gain weight during infancy despite breast feeding. Although concerned, the mother continues to breast feed and wait. The infant subsequently develops cataracts, an enlarged liver, and mental retardation. Urinalysis is significant for high levels of galactose in the urine, as well as galactosemia. What food product in the baby's diet is leading to her symptoms?
A. Fructose
B. Lactose
C. Phenylalanine
D. Glucose
E. Sorbitol
A 5-year-old child presents with Hurler syndrome, which is characterized by dwarfism, hunchback, coarse facies, mental retardation, clouding of the cornea, and sensorineural deafness. The patient also has organomegaly due to the accumulation of which of the following?
A. Glucocerebroside.
B. SphingoIipids.
C. Heparin sulfate and dermatan sulfate.
D. Glycogen.
E. Galactose 1-phosphate.
In a 39-year-old woman who just gave birth, chorionic villus sampling was performed, and a battery of genetic panels was assessed on the newborn. One marker indicated a defective cystathionine beta-synthase. Which of the following compounds would you most likely expect to be elevated in the blood of the infant at birth if the mother was not treated properly?
A. Glutarate.
B. Methionine.
C. Valine.
D. Threonine.
E. Glutamate.
A new test is developed that can nonradioactively "label" compounds in the human body. As a physician with a background in the new field of metabolomics, you assess a 21-year-old with classical phenylketonuria. Phenylalanine is fed with a label in the phenyl ring. In the urine, in which of the following compounds would you expect to find the greatest amount of label?
A. Tyrosine.
B. Tryptophan.
C. Epinephrine.
D. Phenylketone.
E. Acetate.
A 7-year-old boy suffers from mental retardation and self-mutilation (e.g., bitting through lip) and has an increased susceptibility to gout. These symptoms are characteristic of Lesch-Nyhan syndrome, which is due to a mutation in which of the following?
A. Salvage pathway for pyrimidines.
B. De novo biosynthesis of purines.
C. Xanthine oxidase.
D. Salvage pathway for purines.
E. De novo biosynthesis of pyrimidines.
An otherwise healthy 19-year-old man recovering from a respiratory infection sees his family physician. His exam is unremarkable except for a slight degree of yellow discoloration to his skin and eyes. Labs are ordered that reveal a mild increase in unconjugated bilirubin but no other abnormalities. Which of the following is the most likely diagnosis in this patient?
A. Crigler-Najjar syndrome, type I.
B. Crigler-Najjar syndrome, type II.
C. Gilbert syndrome.
D. Lead poisoning.
E. Erythropoietin deficiency.
An infant presents with neonatal jaundice. After several weeks, the jaundice becomes more exaggerated. The patient has an enzyme deficiency that inhibits conjugation of bilirubin. Which of the following reacts with bilirubin to conjugate it?
A. Vitamin C
B. Iron.
C. Ceruloplasmin.
D. Porphyrin ring.
E. UDP-glucuronate.
A 6-month-old infant presents with stools that are pale colored, bulky, and foul smelling. Deep tendon reflexes are absent, his vision is poor, and he has difficulty walking. He is diagnosed with abeta-lipoproteinemia, causing an inability to make and transport an apolipoprotein. His serum level of LDL and VLDL are found to be abnormally low. Which of the following apolipoproteins is most likely to be deficient?
A. ApoAI
B. ApoB
C. ApoCII
D. ApoE
E. ApoAII