Retarded, because of bad diagnosis

Star: 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.