Chinese University screening tests to pick up genetic illness in newborns

Hong Kong's first screening programme for a range of congenital genetic disorders in newborn babies that can cause a lack of body enzymes, leading to organ damage, has been launched by the Chinese University.

Doctors say early detection and treatment of the conditions, known as inborn metabolic disease, can prevent severe skin problems, mental defects and premature death.

It is estimated that the disorders affect one in 4,000 people but have often been mistaken for other diseases because each has different symptoms and doctors are unfamiliar with them.

"Without early diagnosis, these diseases may lead to death, learning disabilities or other problems. With early detection and treatment we can reverse these outcomes," Dr Joannie Hui, honorary paediatrics clinical professor at the university, said yesterday.

Before the screening programme, the diseases were identified only after symptoms appeared and in some cases samples had to be sent overseas for testing, she said.

One of her patients, Elton Leung Tsz-chun, developed skin problems when he was just a year old that made him look as though he had been burned. At two, his condition deteriorated and he was sent to intensive care because of excess acid in his blood. Tests on skin tissue samples sent to Europe found he had an inborn metabolic disease.

His condition improved after medication, and although he still has to take medicine, he leads a largely normal life.