A deficiency in which of the following lysosomal enzymes is inherited in a pattern similar to a deficiency of iduronate sulfatase (Hunter syndrome)?
ASphingomyelinase
BGlucocerebrosidase
CGalactocerebrosidase
DAlpha-L-iduronidase
EAlpha-galactosidase A
A 6-month-old boy is referred to a geneticist after he is found to have persistent hypotonia and failure to thrive. He has also had episodes of what appears to be respiratory distress and has an enlarged heart on physical exam. There is a family history of childhood onset hypertrophic cardiomyopathy, so a biopsy is performed showing electron dense granules within the lysosomes. Genetic testing is performed showing a defect in glycogen processing. A deficiency in which of the following enzymes is most likely to be responsible for this patient's symptoms?
ALysosomal alpha 1,4-glucosidase
BBranching enzyme
CMuscle phosphorylase
DDebranching enzyme
EGlucose-6-phosphatase
A 32-year-old woman comes to the clinic for a routine evaluation. This is her first time visiting this office. Her medical history is significant for cystic medial necrosis of the aorta. Her vital signs include: heart rate 85/min, respiratory rate 15/min, temperature 36.0°C (96.8°F), and blood pressure 110/80 mm Hg. Physical examination shows she is thin and tall with abnormally long extremities and spider-like fingers. Which of the following disorders does the patient most likely have?
ACystic fibrosis
BMarfan syndrome
CTay-Sachs disease
DVon Hippel-Lindau disease
EFabry disease
+ 7 more in the PDF
Browse all chapters