Q: My aunt was diagnosed with a metabolic disorder. I recall reading of a possible
cure or breakthrough medicine. Have you heard of any of these cures?
Dr. Donnica: There is no one disease called "metabolic disorder."
There are a whole host of rare conditions in the category of metabolic disorders,
however. These diseases include phenylketonuria (PKU), maple syrup urine
disease, propionic anemia, galactosemia, congenital adrenal hyperplasia, homocystinuria,
tyrosinemia, urea cycle disease, fatty acid oxidation disorder, and others.
You may have heard an exciting news report last year (5/01) that researchers
from the University of Florida reported "breakthrough" treatment for
one metabolic disorder, PKU. They were able to reverse the condition with a
single gene therapy treatment. . .in mice, not humans. But these research findings
raise tremendous hope not only for people with PKU, but for all related conditions.
Created: 11/23/2002  - Donnica Moore, M.D.