Phenylketonuria and BH4 Deficiencies (UNI-MED Science) , 4th Edition (Original PDF from Publisher)

Phenylketonuria and BH4 Deficiencies (UNI-MED Science) , 4th Edition (Original PDF from Publisher)

By Alberto B. Burlina , Barbara K. Burton , Claire Cannet , Nenad Blau In patients with phenylketonuria (PKU) , blood phenylalanine concentration during childhood is the major determinant of cognitive outcome .

Thanks to newborn screening and early dietary therapy , individuals with PKU no longer experience intellectual disability. Nevertheless, some do not achieve their full potential . The establishment of uniform guidelines and improved management for PKU can lead to optimal outcomes in this metabolic disorder . Since in 1999 it has been shown that some patients with PKU respond to the administration of tetrahydrobiopterin (BH4 ; sapropterin dihydrochloride) by

lowering blood phenylalanine concentrations , that these patients can be treated with sapropterin dihydrochloride . Enzyme substitution therapy with phenylalanine ammonia lyase (PAL) is a promising new option , along with diet and sapropterin , to reduce Phe levels and improve the clinical outcome of subjects with PKU . Gene therapy is another new approach which remains to be evaluated in upcoming studies . It has been also shown that patient’s genotype determines the phenotype and helps in predicting BH4 responsiveness.In the 4th edition of this textbook past , present and future efforts related to PKU and BH4 deficiencies are discussed . The reviews and scientific contributions in this book provide professionals, the patients and their families to understand PKU within a biochemical , neurological and psychological context .

Phenylketonuria and BH4 Deficiencies (UNI-MED Science) , 4th Edition (Original PDF from Publisher)

See also : Alpha-1 antitrypsin deficiency and replacement therapy – Current developments and clinical significance (UNI-MED Science) (Original PDF from Publisher)