- USMLE STEP 1 PRACTICE QUESTIONS MANUAL
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The patient’s medical history is significant for acute hepatitis B 20 years ago. His relatives also note that he has become excessively somnolent and forgetful. Tingling and decreased sensation in both lower extremities began a few months ago. These symptoms have been present since the patient was 52, but they were milder at that time, so he has paid little attention to them since. He complains of early satiety, abdominal discomfort after food intake, and abdominal bloating.
Dysfunctional metabolism of sphingomyelin and accumulation within the lysosomesī. Impaired hydrolysis of GM2-ganglioside and accumulation in the cytoplasmĬ. Lack of mannose phosphorylation on N-linked glycoproteinsĭ. Glycogen accumulation within the hepatocytesĮ. Defective glycolysis resulting in a total energy deficiencyĪ 67-year-old man is brought to the hospital by his relatives. What causes clinical symptoms in a patient with this lysosomal enzyme deficiency?Ī. A blood test shows increased serum lysosomal enzyme concentration and decreased N-acetylglucosamine-1-phosphotransferase (GlcNAc phosphotransferase) activity within the leukocytes. The physician tests for suspected hereditary diseases. Muscle tone is increased in all muscle groups of muscles in the extremities. There is diminished anterior abdominal wall muscle tone and hepatomegaly.
USMLE STEP 1 PRACTICE QUESTIONS SKIN
His skin is pale with decreased elasticity. He has coarse facial features with small deep orbits, proptotic eyes, large lips, and gingival hyperplasia. Vital signs are blood pressure 75/40 mm Hg, heart rate 147/min, respiratory rate 28/min, and temperature 36.4☌ (97.5☏). He babbles, coos, and smiles at other people. The patient was able to raise his head at the age of 7 months and began to sit alone only recently. The patient’s father had a younger sister who had mental and physical growth delays and died at a very young age. He was recently diagnosed with failure to thrive and developmental delay all 3 major growth measurements are below the 1st percentile for his age: his weight is 7 kg (15.4 lb), height is 61 cm (24 in), and head circumference is 42 cm (16.5 in). Which of the following is true of this molecule’s role in metabolism?Į. it performs its function in the mitochondrial intermembrane spaceĪ 12-month-old boy presents to his pediatrician for a follow-up appointment. It is expected that 2,3-bisphosphoglycerate at the biochemical level should be high in this patient.
USMLE STEP 1 PRACTICE QUESTIONS MANUAL
A CBC with manual differential reveals atypical appearing red blood cells, consistent with sickle cell disease. On examination, the boy presents with jaundice, mild hepatomegaly, and tachycardia. He is behind on most of his vaccines, and they have developed a plan to get him caught up. He was born at 39 weeks’ via spontaneous vaginal delivery and is meeting all developmental milestones. His mother reports that her son is always tired and had no energy to play like the other kids in their remote village in Nigeria.
USMLE STEP 1 PRACTICE QUESTIONS PRO
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