45-Year-old female with propionic acidemia, renal failure, and premature ovarian failure; late complications of propionic acidemia?

摘要

We describe a 45-year-old patient who was diagnosed with propionic acidemia in infancy, who experienced an unstable first two years of life but who eventually had a good developmental outcome. She developed severe renal failure requiring renal transplantation in her forties and premature ovarian failure. Renal failure and premature ovarian failure have not previously been associated with propionic acidemia. We hypothesize that propionic acidemia may have contributed to these complications, and discuss several possible mechanisms for this, emphasizing mainly the electron transport chain/mitochondrial energy deficiency hypothesis.