Real Story

Tyrosinemia Type I

Tyrosinemia Type I is a type of amino acid disorder characterised by the lack of fumarylacetoacetate hydrolase (FAH), an enzyme required to breakdown the amino acid tyrosine; If left untreated, the condition can potentially result in a wide variety of symptoms including liver & kidney failures, developmental delays, increased risk of liver cancer, etc.

Phenylketonuria (PKU)

Phenylketonuria (also known as PKU) is a congenital disorder that increases the levels of phenylalanine in the blood. Phenylalanine is the building block of proteins that are obtained through dietary intake of food such as meat, fish, beans, eggs and some artificial sweeteners.If left untreated, phenylalanine can build up to harmful levels in the body, causing permanent intellectual disability and other serious health problems; Affected infants usually become apparent by 6 months of age with signs of mental retardation.

Primary Hyperoxaluria

Matthew was born in February 2011 with a rare genetic disorder called Primary Hyperoxaluria Type 1. This was difficult for the family as Matthew’s sister has the same condition, though she had not experienced serious symptoms. However, Matthew were suffering serious symptoms which affected his liver as well as his kidney and he has been on dialysis at least 6 days a week since he was 5 months old. However, all the medications and dialysis did not improve Matthew’s liver and kidneys. Finally, he got liver and kidney transplant on 2013.

Canavan Disease

Canavan disease is a progressive and fatal cerebral degenerative disease that begins in infancy. This inherited genetic abnormality is caused by mutations in the gene for an enzyme which causes deterioration of the white matter (myelin) in the brain Symptoms such as mental retardation, lack of head control etc, usually become noticeable at the age of three to nine months old. Many children do not live past age 10.Although there is currently no cure for Canavan disease, the present treatment involves managing the symptoms.


Disclaimer

Metascreen® is a trademark or registered trademark of Cordlife Group Limited, a Singapore Exchange Mainboard listed company. The screening test offered under the brand is conducted by Cordlife (Hong Kong) Ltd., a CAP-accredited laboratory committed to providing early and accurate detection of metabolic disorders in newborn babies. Cordlife (Hong Kong) Ltd. has a quality management system in place to ensure maximum accuracy of screening results. As with any laboratory tests, false positive or false negative results cannot be completely eliminated due to various reasons including but not limited to age of patient at the time of specimen collection, patient’s health status, specimen quality and other variables. Hence, the risk of a disorder should never be precluded solely on the basis of screening. Signs or symptoms observed should be followed up immediately by a professional healthcare provider.

Reference :
1) Evaluation of the 18-month "Pilot Study of Newborn Screening for Inborn Errors of Metabolism" in Hong Kong. HK J Paediatric (New Series). 2020;25:16-22
2) Michael J. Laboratory Medicine Practice Guidelines. Follow-up Testing for Metabolic Diseases Identified by Expanded Newborn Screening Using Tandem Mass Spectrometry. The National Academy of Clinical Biochemistry. 2009
3) Based on internal data, as of June 2020.
4) D. Matern, K. Raymond, S. Tortorelli, et al. Improving NBS Performance: The Mayo Clinic Experience Report.
5) Inborn Errors Of Metabolism (IEM). MyHealthh Kementerian Kesihatan Malaysia Website. http://www.myhealth.gov.my/en/inborn-errors-of-metabolism/. Accessed April 2020.