Although genotype phenotype correlations are imperfect, genotype is clearly the best clinically available predictor of severity in PAH deficiency; siblings tend toward similar degrees of enzyme deficiency and dietary PHE tolerance.
Nonsmokers who have the enzyme deficiency are generally unaffected.
His current fascination is an enzyme deficiency called trimethylaminuria (TMAU), also known as fish-odor syndrome.
The drug in question, Cerezyme, is used to treat a rare inherited enzyme deficiency called Gaucher disease.
She knew that some patients with chronic fatigue syndrome, and some men with prostate cancer, had a certain enzyme deficiency.
Brady, R. O. et al. Replacement therapy for inherited enzyme deficiency.
Influence of mitochondrial enzyme deficiency on adult neurogenesis in mouse models of neurodegenerative diseases.
Their daughter had a genetic enzyme deficiency that, if left untreated, could cause developmental delays and vision problems.
A warning, though: fava beans are toxic to individuals with favism, caused by an inherited blood enzyme deficiency.
In the early 1990's, Mary Nathan of Rockville, Md., was in a wheelchair, her bones deteriorating from Gaucher disease, a rare enzyme deficiency.
But now, traced to an enzyme deficiency, it can be controlled like diabetes, Dr. Holmes Morton, medical director of the Lancaster clinic, said.
