ISSN:
1432-1904
Source:
Springer Online Journal Archives 1860-2000
Topics:
Biology
,
Chemistry and Pharmacology
,
Natural Sciences in General
Notes:
Abstract The heterogeneity of phenylketonuria can be explained on the molecular basis. Because the phenylalanine-hydroxylating system consists of more than one enzyme, each enzyme can be mutated. Different mutations of the phenylalanine hydroxylase molecule resulting in a lack or reduction of enzyme activity can be anticipated. Enzyme activity lower than 1 % compared to normals is correlated to the severe form; enzyme activity higher than 5% is correlated to the mild form of the disease. Phenylketonuria can also be caused by a defective synthesis or defective reduction of the cofactor. Patients suffer severe neurological symptoms, because of an impaired synthesis of dopamine and serotonin.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/BF01047629
