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Metabolic Screening Programme Extended

24 November 2006

Ministry of Health Extends Newborn Metabolic Screening Programme

The screening programme that detects rare but life-threatening disorders in the nation's newborns is about to be expanded.

From early December, the Newborn Metabolic Screening Programme (NMSP) will screen newborns for more than 20 additional disorders, says the Ministry's Chief Advisor Child and Youth Health, Dr Pat Tuohy.

The programme will be familiar to parents of nearly all children born since the late 1960s through the heel prick for a small amount of blood taken from their baby soon after birth.

The blood is transferred to a 'Guthrie card', which is then used to detect seven rare but life-threatening disorders.

Now, thanks to the Starship Foundation's generous gift of a new machine called a Tandem Mass Spectrometer or 'tandem', babies can be screened for more disorders. The Foundation raised the $500,000 required through support from the Lion Foundation, RA Bell Trust and the NR & JH Thomson Charitable Trust.

"The use of the new machine will dramatically improve the lives of even more New Zealand babies and their families," says Dr Tuohy.

At present, the NMSP has almost 100 percent coverage, with more than 56,000 babies tested each year.

"Of these, about 35 babies are detected with one of the disorders. With the 'tandem' we expect about 10 more babies a year will be found to have a metabolic disorder."

Metabolic conditions are rare, inherited conditions that are caused by a defect in the chemistry of the cell. If they are not detected and treated early they may cause death or irreversible brain damage to a baby. However, with early identification and appropriate treatment, usually with a special diet, the impact of the disorders can be reduced.

How the blood sample is taken and the amount of blood that is required remains unchanged.

Background Information -

The Auckland District Health Board's National Testing Centre runs the Newborn Metabolic Screening Programme for the whole of New Zealand. In July 2005, the National Screening Unit, a separate unit of the Ministry of Health, took responsibility for the programme's funding, monitoring and strategic direction.

New Zealand babies are currently screened for seven metabolic disorders, which are congenital hypothyroidism, cystic fibrosis, phenylketonuria (PKU), Maple Syrup Urine Disease (MSUD), Congenital Adrenal Hyperplasia (CAH), galactosaemia, biotinidase deficiency, when they are 48 hours old, or soon after.

There are four main types of metabolic disease screened for. They are disorders of protein metabolism, fat metabolism, sugar metabolism and conditions affecting the body's production of some hormones.

The programme currently screens for two disorders of protein metabolism - PKU and Maple Syrup Urine Disease (MSUD) but will now be able to test for over 10 more disorders affecting amino acid breakdown.

Disorders of protein metabolism lead to harmful levels of waste products, such as ammonia. The treatment for these disorders is a special diet.

The most common disorder of fat metabolism that screening will now detect is Medium Chain Acyl-CoA Dehydrogenase (MCAD) deficiency. Another 8 disorders of fat metabolism can also be detected.

With disorders of fat metabolism, energy cannot be used from fats and the body can run out of energy. Regular feeding and close supervision during times of illness reduces the impact of these disorders.

Galactosaemia is a disorder of milk sugar metabolism and causes a range of abnormalities including cataracts.

The two conditions which affect the body's production of hormones are hypothyroidism, which is caused by a lack of thyroid hormone throxine and leads to intellectual disability. The other is Congenital Adrenal Hyperplasia (CAH) which can lead to problems with sexual development.


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