Treatment
In the middle of the 20th century the principal treatment for some of the amino acid disorders was restriction of dietary protein and all other care was simply management of complications. In the past twenty years, enzyme replacement, gene transfer, and organ transplantation have become available and beneficial for many previously untreatable disorders. Some of the more common or promising therapies are listed:
- Dietary restriction
- E.g., reduction of dietary protein remains a mainstay of treatment for phenylketonuria and other amino acid disorders
- Dietary supplementation or replacement
- E.g., oral ingestion of cornstarch several times a day helps prevent people with glycogen storage diseases from becoming seriously hypoglycemic.
- Vitamins
- E.g., thiamine supplementation benefits several types of disorders that cause lactic acidosis.
- Intermediary metabolites, compounds, or drugs that facilitate or retard specific metabolic pathways
- Dialysis
- Enzyme replacement E.g. Acid-alpha glucosidase for Pompe disease
- Gene transfer
- Bone marrow or organ transplantation
- Treatment of symptoms and complications
- Prenatal diagnosis and avoidance of pregnancy or abortion of an affected fetus
Read more about this topic: Inborn Error Of Metabolism
Famous quotes containing the word treatment:
“I feel that any form of so called psychotherapy is strongly contraindicated for addicts.... The question “Why did you start using narcotics in the first place?” should never be asked. It is quite as irrelevant to treatment as it would be to ask a malarial patient why he went to a malarial area.”
—William Burroughs (b. 1914)
“If the study of all these sciences, which we have enumerated, should ever bring us to their mutual association and relationship, and teach us the nature of the ties which bind them together, I believe that the diligent treatment of them will forward the objects which we have in view, and that the labor, which otherwise would be fruitless, will be well bestowed.”
—Plato (c. 427–347 B.C.)
“Judge Ginsburg’s selection should be a model—chosen on merit and not ideology, despite some naysaying, with little advance publicity. Her treatment could begin to overturn a terrible precedent: that is, that the most terrifying sentence among the accomplished in America has become, “Honey—the White House is on the phone.””
—Anna Quindlen (b. 1952)