Wilson's disease is a genetic metabolic defect that causes excess copper to build up in the body.
Several metabolic defects, such as phenylketonuria, are associated with autistic symptoms.
The exact cause of cerebellar abiotrophy is not known, but it is thought to be due to an intrinsic metabolic defect.
As many as 600 patients have been given gene therapy in studies, for diseases ranging from rare metabolic defects to common cancers.
B. I think that he or she might have a metabolic defect or a psychological problem.
"We've achieved a partial correction of a metabolic defect," Dr. Wilson said in an interview.
Hereditary spherocytic hemolytic anemia is caused by an inherited metabolic defect.
Liver transplantation (often in addition to renal transplant) may be able to control the disease by correcting the metabolic defect.
There are three main types of primary hyperoxaluria, each associated with specific metabolic defects.
At the same time, others researchers have been looking for metabolic defects that might predispose people to have high homocysteine levels.