Affected individuals can suffer from complex and diverse clinical symptoms. These symptoms are non-specific and can be misdiagnosed as infectious diseases such as intracranial hemorrhage, pneumonia, meningitis and sepsis. Children are prone to abnormal body odor, feeding difficulties, convulsions, lethargy, changes in muscle tone, developmental delay, unexplained cardiomyopathy and hepatosplenomegaly. Some diseases may cause hypoglycemia, acidosis, high blood ammonia levels etc., that could result in an acute attack due to infection. This type of disease can threaten multiple systems in children, including the nervous, digestive and circulatory system resulting in impaired growth and development, mental retardation and even death in severe cases.

Early detection and treatment can avoid irreversible organ damage and death. It can help a newborn with hereditary diseases to live a normal, healthy and happy life, reducing stress and significant financial burden on the parents, family and public health system.

Yes, babies who do not have any symptoms or history of hereditary metabolic disorders in the family are also recommended to be screened for IEM. As these illnesses are autosomal recessive genetic diseases, both parents are only carriers. In cases where the child inherits two affected genes (one defective gene from each parent), the baby has a 25% chance to be affected. Presently, most newborns with congenital inherited metabolic disorders are from a family with unaffected parents. They appear normal at birth and hence can be missed being detected based on only physical appearance at that early age.

48 in total. Of the 48:

Normal results indicate minimal or no risk of disease. Results will become available under 'View report' of the app within 5 working days of sample reaching the lab. The report will indicate that no abnormality has been detected. No other action is required. Parents are still advised to receive regular health checks for their children.

In the case of any positive result, Govita will immediately get in touch with the parents via a phone call and results will be available under 'View report' of app. Govita will provide details of a specialist during the call, who will provide timely follow-up of the case. It is the customers responsibility to contact the specialist right away.

A positive test result does not mean a confirmed diagnosis as IEM is a screening test. Certain factors such as contamination of the specimen, improper blood collection, medication, incubation period, premature birth, hunger and the nutritional status of the mother may sometimes cause a 'false positive' result.

Parents should proactively approach the doctor as soon as possible if they find any signs of abnormality in their children.

Immediate follow-up with the specialist/hospital is required for further testing and confirmation in all positive cases as early intervention is key to leading a normal life for children affected by an IEM.

IEM's can be treated and intervened with special milk powder or drugs under the care of a specialist. Again, the key is early detection and early treatment. Most diagnosed babies can achieve the same level of physical and mental development as their peers through early detection and timely intervention.

It is recommended for all newborn babies to test for IEM. If the baby has the above symptoms, it is more necessary to test.

Yes. The above newborns may require more than one sample to be collected. The first sample should be ideally drawn at 24 to 72 hours after birth and preferably before they receive any blood transfusions if required. The second sample should be drawn at day 28 after birth.

The best time to test is a day after feeding and from two to seven days after birth for newborns born at or after 34 weeks of gestation.

5 working days of sample reaching the laboratory.

Most inherited metabolic diseases are autosomal recessive diseases. This means that even parents who have had a baby with a genetic metabolic disease in the past have a chance to have a healthy baby in the future. However, they are advised to receive genetic counseling and regular prenatal diagnosis during pregnancy.

Sample collection will occur after a day of feeding and within 7 days of birth. A drop of blood will be drawn by a medical professional from the heel of the newborn and dripped onto a filter paper provided by Govita. The sample will be air dried and sent to the laboratory in Hong Kong by the clinic.

Govita Laboratory utilizes High Performance Liquid Chromatography Tandem Mass Spectrometry (HPLC-MS/MS) (Sciex Triple Quadrupole 5500 system) to analyse Dried Blood Spot (DBS) samples.