Phenylketonuria: therapeutic problems.

Phenylketonuria. Some current problems.

Phenylketonuria - genetic, clinical and therapeutic aspects

Biochemistry and genetics of PKU The normal route for Phe metabolism is its hydroxylation to tyrosine, catalyzed by PAH and requiring tetrahydrobiopterin as a cofactor. The human PAH gene is located on chromosome 12q23.2 and contains 13 exons. More than 500 disease-causing mutations have been identified in patients with PKU or hyperphenylalaninaemia (HPA), 67% of them being missense mutations. ...

Diagnostic and Therapeutic Problems of Geriatric Headache

There is no difference in clinical characteristics of headache between old individuals and younger’s. However, differential diagnosis of migrainous aura and transient ischemic attacks may be difficult in old people who frequently have vascular risk factors. Old people have less headache than the young’s. Chronic tension headache is the most common primary type of headache in the elderly. Chroni...

Phenylketonuria.

Phenylketonuria is the most prevalent disorder caused by an inborn error in aminoacid metabolism. It results from mutations in the phenylalanine hydroxylase gene. Phenotypes can vary from a very mild increase in blood phenylalanine concentrations to a severe classic phenotype with pronounced hyperphenylalaninaemia, which, if untreated, results in profound and irreversible mental disability. Neo...

Phenylketonuria