For example, strict dietary management for PKU can ... accompanied by genetic counselling, which helps couples understand the inheritance patterns of the disorder, the risks involved, and their ...

Genetic disease characterized by mental retardation, light skin, and eczema; caused by mutations in the gene that encodes phenylalanine hydroxylase (PAH), a liver enzyme that normally metabolizes ...

Single gene disorders ... developed the first diagnostic test for PKU in 1957. Called the "wet diaper" test, Centerwall's test involved adding a drop of ferric chloride to a wet diaper; if ...

BioMarin Pharma has had another setback in its gene therapy development programme, announcing this morning that the FDA has placed a phase 1/2 trial of its candidate for phenylketonuria (PKU ...

PKU is a rare genetic disease that manifests at birth ... in fasting plasma phe levels in the Synpheny-1 study, which involved 20 PKU patients, with a mean 20% reduction for SYNB1618 and 34% ...