Tuesday September 12, 2006
Retarded, because of bad diagnosis
KUALA LUMPUR: About one-third of babies with inherited metabolic diseases have been misdiagnosed, resulting in the infants becoming mentally retarded or physically handicapped, and some failing to survive, according to a geneticist.
From a recent study on 812 cases of Inborn Errors of Metabolism (IEM), one-third were severely handicapped and their condition was not properly diagnosed, or had been misdiagnosed, said Dr Choy Yew Sing, chief investigator of the pilot project, Newborn Screening for Inborn Errors of Metabolism, which started on Sept 1.
Many of these cases went undetected because the condition presented common symptoms, hence the misdiagnosis of poor feeding, fits, comatose, mental retardation, behavioural problem, hearing or visual problem or organ dysfunction, he said.
The lack of expertise and IEM testing facilities also added to the lack of detection.
“There are only three geneticists in Malaysia trained to detect IEM and only KL Hospital and the Institute for Medical Research have the diagnostic facilities,” said Dr Choy.
One in 1,500 children are born with the condition. With 500,000 babies born every year in Malaysia, there would be more than 300 cases a year, he said.
Dr Choy said the Government had initiated the pilot project to look into the feasibility of screening all newborn babies for genetic metabolic disorder.
News Poll
- Teacher held for oral sex on Year Two girl
- Lau sought psychiatrist’s help after death of fan’s dad
- Police shoot dead leader of ‘Berong Gang’
- Australian court sentences Malaysian who posed as taxi driver
- Prime Minister comes up with plan to end crisis in MCA
- Teoh Beng Hock exhumed for second autopsy (Update)
- Fresh polls in six to eight months if new mechanism used
- Foreign woman falls to death at high-end condo
- Settle RM57, 5As pupil told High scorer can’t collect result slip
- Eli’s ex still being sought by cops
- Australian court sentences Malaysian who posed as taxi driver
- Teacher held for oral sex on Year Two girl
- 10 states see increase in number of dengue cases
- AirAsia launches new flights to three Indian cities
- Lau sought psychiatrist’s help after death of fan’s dad
- Teoh Beng Hock exhumed for second autopsy (Update)
- Prime Minister comes up with plan to end crisis in MCA
- Take care of yourself first
- Police shoot dead leader of ‘Berong Gang’
- Indonesia seizes 75tons of explosive material from M’sia
RSS
