Natural History, Prognosis, Long Term Complications
Without adequate metabolic treatment, patients with gsd I have died in infancy or childhood of overwhelming hypoglycemia and acidosis. Those who survived were stunted in physical growth and delayed in puberty because of chronically low insulin levels. Mental retardation from recurrent, severe hypoglycemia is considered preventable with appropriate treatment.
Hepatic complications have been serious in some patients. Adenomas of the liver can develop in the second decade or later, with a small chance of later malignant transformation to hepatoma or hepatic carcinomas (detectable by alpha-fetoprotein screening). Several children with advanced hepatic complications have improved after liver transplantation.
Additional problems reported in adolescents and adults with gsd I have included hyperuricemic gout, pancreatitis, and chronic renal failure. Despite hyperlipidemia, atherosclerotic complications have been infrequently reported.
With diagnosis before serious harm occurs, prompt reversal of acidotic episodes, and appropriate long-term treatment, most children will be healthy. With exceptions and qualifications, adult health and life span may also be fairly good, although lack of effective treatment before the mid-1970s has limited our long-term information.
Read more about this topic: Glycogen Storage Disease Type I
Famous quotes containing the words natural, long and/or term:
“Should you be unfortunate enough to have vices, you may, to a certain degree, even dignify them by a strict observance of decorum; at least they will lose something of their natural turpitude.”
—Philip Dormer Stanhope, 4th Earl Chesterfield (16941773)
“Will no one tell me what she sings?
Perhaps the plaintive numbers flow
For old, unhappy, far-off things,
And battles long ago:”
—William Wordsworth (17701850)
“Children, I grant, should be innocent; but when the epithet is applied to men, or women, it is but a civil term for weakness.”
—Mary Wollstonecraft (17591797)