All Subjects Medicine Surgery Pathology Anatomy Pharmacology Social & Preventive Medicine Microbiology Gynaecology & Obstetrics Dental Physiology Biochemistry Pediatrics
Showing 15321 questions
Sort:
6460 Pathology

A 20-year-old woman complains of intermittent, colicky abdominal pain, fine tremors of her hands, excess sweating, and a general feeling of restlessness. Laboratory studies reveal an inherited defect in the biosynthesis of heme. This patient’s genetic disease is most likely caused by deficiency of which of the following liver enzymes?

AAlanine aminotransferase
BAlkaline phosphatase
CPorphobilinogen deaminase
DUridine diphosphate glucuronyl transferase
Pathology
View Explanation β†’
6462 Pathology

A 4-year-old girl developed clumsiness and difficulty ambulating over 6 months. On physical examination, she showed difficulty with balance while walking, dysarthria, poor hand coordination, absent deep tendon reflexes, and a bilateral Babinski sign. Light touch and vibratory sensation were greatly diminished. There was no muscular weakness. Over the next 5 years, she developed congestive heart failure from hypertrophic cardiomyopathy. She also had hyperglycemia. At autopsy, there was increased perinuclear iron deposition within cardiac myocytes. Which of the following genetic abnormalities with trinucleotide repeat expansions was most likely present in this patient?

ACAG repeats in the huntingtin gene
BCGG repeats in the FMR1 gene
CCTG repeats in the dystrophila myotonia-protein kinase gene
DGAA repeats in the frataxin gene
Pathology
View Explanation β†’