Free Online USMLE Step 1 Questions and Answers 3

Finding free online USMLE Step 1 questions and answers is an essential step for many medical students and professionals preparing for the exam. When preparing for the USMLE Step 1, it is crucial to reinforce knowledge and become familiar with the exam format through extensive practice questions. Fortunately, our websites will offer free USMLE Step 1 questions and answers, aiding candidates in better preparing for this critical medical examination.

Biochemistry

1. A 2-month-old boy is brought to the emergency department due to irritability and vomiting. The patient is exclusively breastfed but has not been tolerating feeds since yesterday. Urine output has decreased. The mother has a history of obesity and had gastric bypass surgery several years prior to pregnancy. Temperature is 37 C (98.6 F), pulse is 190/min, and respirations are 60/min. The patient is in moderate respiratory distress and has an enlarged liver. Physical examination is otherwise normal. Chest radiography reveals cardiomegaly. Further workup shows impaired carbohydrate metabolism with increased serum levels of lactate and decreased erythrocyte transketolase activity. Which of the following additional enzymes is most likely to have impaired activity in this
patient?

A. Alpha-1,4-glucosidase
B. Alpha-L-iduronidase
C. Galactose-1-phosphate uridyltransferase
D. Glucose-6-phosphatase
E. Pyruvate dehydrogenase

Correct Answer: E

Answer Explanation:

(Choice A) Alpha-1,4-glucosidase deficiency (Pompe disease) causes cardiomegaly due to glycogen accumulation in myocytes; heart failure can lead to hepatomegaly. Infants typically have profound weakness and hypotonia, findings not present in this patient. Moreover, ETKA and lactate would be normal.
(Choice B) Alpha-L-iduronidase deficiency (Hurler syndrome) results in the accumulation of glycosaminoglycans and often presents with hepatomegaly; heart failure can also occur. In contrast to this patient, characteristic coarse facial features and recurrent respiratory infections are expected; serum lactate and ETKA would be normal.
(Choice C) Galactose-1-phosphate uridyltransferase deficiency (galactosemia) results in impaired galactose metabolism. Hepatomegaly and vomiting are common but typical ly develop in the first week of life and are associated with jaundice and hypotonia. ETKA would be normal.
(Choice D) Glucose-6-phosphatase deficiency (von Gierke disease) results in accumulation of glycogen in the liver, causing hepatomegaly; lactic acidosis is common. However, cardiomegaly would not be seen, and ETKA would be normal.

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2. A 5-month-old boy is brought to the office due to poor feeding. His mother says that he has difficulty holding his head up while breastfeeding and his suckling seems weaker than usual. Weight is at the 5th percentile. Length and head circumference are tracking along the 25th percentile. Physical examination shows hepatomegaly and hypotonia in all 4 limbs. Cardiac auscultation shows a gallop rhythm, and chest x-ray reveals severe cardiomegaly. Muscle biopsy shows enlarged lysosomes containing periodic acid-Schiff (PAS)-positive material. Which of the following enzymes is most likely deficient in this patient?

A. Acid alpha-glucosidase
B. Galactokinase
C. Glucose-6-phosphatase
D. Glycogen debrancher enzyme
E. Glycogen phosphorylase
F. Pyruvate kinase

Correct Answer: A

Answer Explanation:

(Choice B) Galactokinase catalyzes the phosphorylation of galactose to galactose-1-phosphate in the first committed step of galactose catabolism. Galactokinase deficiency causes neonatal cataract formation due to accumulation of galactitol in the lens.
(Choices C, D , and E) Other glycogen storage diseases are caused by deficiencies of glucose-6-phosphatase, glycogen phosphorylase, and glycogen debrancher enzyme (debranching enzyme). However, glycogen accumulation within lysosomal vacuoles is specific for acid alpha-glucosidase deficiency.
(Choice F) Pyruvate kinase deficiency causes chronic hemolytic anemia, splenomegaly, and iron overload as a result of impaired erythrocyte survival.

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3. A 34-year-old previously healthy man comes to the emergency department due to a 3-hour history of chest pain, diaphoresis, and dyspnea. He does not smoke, exercises regularly, and eats a balanced diet. His father died at age 56 from a myocardial infarction. His blood pressure is 110/70 mm Hg and pulse is 110/min and regular. Physical examination is unremarkable. ECG shows ST elevation in the anterolateral leads. Coronary angie>gram reveals proximal left anterior descending artery stenosis and thrombosis, which is treated with angioplasty and stent placement. Laboratory results are as follows:

Usmle3 1

Further testing reveals a homozygous mutation in the methylene tetrahydrofolate reductase gene that leads to decreased enzymatic activity. Due to this defect, the patient most likely has impairment converting homocysteine to which of the following?

A. Cystathjonine
B. Cysteine
C. Methionine
D. Methylmalonyl-CoA
E. Succinyl-CoA

Correct Answer: C

Answer Explanation:

Homocysteine can be metabolized to methionine via remethylation or to cystathionine via transsulfuration. Remethylation to methionine occurs with the donation of a methyl group from methyl-tetrahydrofolate via methionine synthase, with vitamin B 12 (cobalamin) as an important cofactor. Methyl-tetrahydrofolate is regenerated by the enzyme methylene tetrahydrofotate reductase (MTHFR), using FAD as a cofactor. Homocysteine can also undergo transsulfuration via cystathionine-β-synthase to cystathionine (Choice A) and subsequently to cysteine (Choice B) via the enzyme cystathionase, using vitamin B6 as a cofactor.

(Choices D and E) Vitamin B12 is a cofactor for the enzyme methylmalonyl-CoA mutase in the conversion of methylmalonyl-CoA to succinyl-CoA, a reaction that occurs in the breakdown of odd-chain fatty acids and some amino acids. As a result, patients with vitamin B12 deficiency have elevated methylmalonyl-CoA levels that subsequently result in buildup of neurotoxic methylmalonic acid. Symptomatic consequences include lethargy, seizures, paresthesias, and hypotonia. Homocysteine is elevated in both folate and vitamin B12 deficiencies, but methylmalonyl-CoA is elevated in vitamin 8 12 deficiency only.

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