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:
“Our treatment of both older people and children reflects the value we place on independence and autonomy. We do our best to make our children independent from birth. We leave them all alone in rooms with the lights out and tell them, “Go to sleep by yourselves.” And the old people we respect most are the ones who will fight for their independence, who would sooner starve to death than ask for help.”
—Margaret Mead (1901–1978)
“[17th-century] Puritans were the first modern parents. Like many of us, they looked on their treatment of children as a test of their own self-control. Their goal was not to simply to ensure the child’s duty to the family, but to help him or her make personal, individual commitments. They were the first authors to state that children must obey God rather than parents, in case of a clear conflict.”
—C. John Sommerville (20th century)
“To me, nothing can be more important than giving children books, It’s better to be giving books to children than drug treatment to them when they’re 15 years old. Did it ever occur to anyone that if you put nice libraries in public schools you wouldn’t have to put them in prisons?”
—Fran Lebowitz (20th century)