Spotlight on rare genetic metabolic disorder, galactosaemia

Early treatment can prevent or reverse the acute problems of galactosaemia.
Early treatment can prevent or reverse the acute problems of galactosaemia.
In the Newborn Metabolic Screening Programme just over 20 conditions are screened for. One of the rarest and potentially most harmful of these is galactosaemia.

In galactosaemia, a defective enzyme prevents normal use of milk sugar, or lactose. In its most severe form, a baby who continues to drink milk may develop symptoms that progress within days from jaundice, vomiting and diarrhoea, to severe kidney and liver damage, sepsis and death.

There are several variants of this rare genetic metabolic disorder. About 1 in 100,000 babies in New Zealand (about one every two years) is affected by classic galactosaemia.

Early treatment, including starting soy formula, can prevent or reverse the acute problems of galactosaemia, and children with the disorder often go on to lead healthy lives. About half of those affected may suffer some degree of learning difficulties and may have delayed speech.

Accurate, reliable sample taking and timely testing key to a reliable result

The rapid damage caused soon after birth by galactosaemia highlights the importance of getting blood spot samples to the laboratory as soon as possible. Any delays can affect the outcome for babies, especially when there is often no clinical indication of the disorder prior to the screening test.

Accurate and reliable sample taking is a critical part of the screening pathway. Newborn metabolic screening samples need to be taken as soon as possible after 48 hours of age and posted immediately the sample is dry.

For every sample, please ensure:

  • all information is provided on the card

  • the sample is taken at 48 hours after birth or as soon as possible after this (preferably between 48-72 hours)

  • all the circles of the blood spot card are filled in

  • the sample is dried horizontally

  • the sample is placed in the free FastPost envelope

  • the sample is posted in a blue FastPost box. (You can check the location of FastPost boxes in your area here.)

Blood spot cards, FastPost envelopes and lancets can be ordered by emailing: newbornscreeningresources@adhb.govt.nz.

A report will be provided to the Lead Maternity Carer for every baby tested. If you have not received a report within 10 days of posting the sample, please call LabPLUS on 0800 522 7587 (0800LABPLUS) to check and take action, where required.

If a baby is unwell or you have concerns, the screening laboratory scientist at LabPLUS can provide more information about results and other testing. Don’t wait for a screening result if the baby is sick - ensure appropriate diagnostic testing is performed and phone the metabolic service at Auckland District Health Board early.

More information and best practice advice is available here.

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Page last updated: 30 November 2015