Newborn metabolic screening adds immunodeficiency test

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CHILD HEALTH

Newborn metabolic screening adds immunodeficiency test

Guest writer

Thursday 14 December 2017, 04:53 PM

This month sees a change to the targeted diseases of the Newborn Metabolic Screening Programme; here we review the new programme, its history, how it operates and how GPs can best make use of it

With SCID, there is a high chance of death within the first year of life Newborn screening is available to all babies born in New Zealand, with n

1. Albert B, Heather N, Derraik J et al. Neurodevelopmental and body composition outcomes in children with congenital hypothyroidism treated with high-dose initial replacement and close monitoring. J Clin Endocrinol Metab 2013;98:3663–70.

2. Knox W. An evaluation of the treatment of phenylketonuria with diets low in phenylalanine. Pediatrics 1960;26(1).

3. Wilcken B, Haas M, Joy P et al. Outcome of neonatal screening for medium-chain acyl-CoA dehydrogenase deficiency in Australia: a cohort study. Lancet 2007;369:37–42.

4. Kwan A, Abraham R, Currier R et al. Newborn screening for severe combined immunodeficiency in 11 screening programs in the United States. JAMA 2014;312(7):729–38.

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