Adrenoleukodystrophy (ALD) is a fatal disease that results from the inability of liver cells to transport very long chain fatty acids (VLCFAs) across the peroxisomal membrane. It is diagnosed by the presence of high levels of VLFCAs in the blood. The disease results in destruction of brain myelin leading to progressive cognitive impairment, coma, and death by the age of 14. ALD is an X-linked recessive condition, and there has never been a case of ALD described in girls. You have just started your internship at the Mayo clinic and a 10-year-old girl comes in who is in a coma and having seizures. Blood tests show she has extremely elevated levels of long-chain fatty acids. This looks like ALD, but a girl has never been afflicted. When you go to your supervisor to give your diagnosis, which

Question

of the following hypotheses do you present to support it?

A. The patient's mother is a carrier, and the young girl has either only genetically normal Barr bodies in the liver or the girl has Turner syndrome.
B. The patient has Turner syndrome.
C. The patient's mother is a carrier for ALD.
D. The patient's mother and father are both recessive carriers of ALD.
E. Most of the Barr bodies in the patient's liver have a normal peroxisome gene.

Answer 1

Answer: A