A 7-month-old boy is brought by his parents to the pediatrician’s office. His mother says the child has been weakening progressively and is not as active as he used to be when he was born. His condition seems to be getting worse, especially over the last month. He was born at 41 weeks through normal vaginal delivery. There were no complications observed during the prenatal period. He was progressing well over the 1st few months and achieving the appropriate milestones. On examination, his abdomen appears soft with no liver enlargement. The patient appears to be dehydrated and lethargic. The results of a fundoscopic examination are shown in the picture. A blood test for which of the following enzymes is the next best assay to evaluate this patient's health?
AAcid alpha-glucosidase
BHexosaminidase
CSphingomyelinase
DGlucocerebrosidase
EArylsulfatase A
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 37-year-old primigravid woman comes to the physician at 13 weeks' gestation for a prenatal visit. She feels well. Her only medication is folic acid. Vital signs are within normal limits. Pelvic examination shows a uterus consistent in size with a 13-week gestation. Ultrasonography shows a nuchal translucency above the 99th percentile. Maternal serum pregnancy-associated plasma protein A is decreased and human chorionic gonadotropin concentrations are elevated to 2 times the median level. Which of the following is most likely to confirm the diagnosis?
AChorionic villus sampling
BCell-free DNA testing
CTriple screening test
DAmniocentesis
EQuadruple marker test
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