Exam 24: The Metabolism of Membrane Lipids

One per 30 Ashkenazi Jews carries a mutation for Tay-Sachs disease in the heterozygous state.The heterozygotes can be identified by measuring one of the following enzymes in cultured leucocytes:

A pregnant woman mentions that 2 years ago, her first child died 2 weeks after birth because the newborn's "lungs were immature" at birth.Because you are planning a cesarean section, you want to determine first whether there is a risk of respiratory problems for her current baby.Which of the following results from an analysis of the mother's amniotic fluid would indicate a high risk?

The alleles in the ABO blood group system code for:

A 5-year-old girl presents with hepatosplenomegaly, abnormal bleeding, defects in long bone development, and neurological dysfunction.A liver biopsy reveals an accumulation of glucocerebroside.These symptoms indicate the child is suffering from: