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Type: Journal article
Title: Detection of treatable neonatal liver disease by expanded newborn screening
Author: Mackay, R.
Bratkovic, D.
Couper, R.
Davidson, G.
Fahy, R.
Fletcher, J.
Ranieri, E.
Citation: Journal of Inherited Metabolic Disease, 2008; 31(Suppl. 2):S271-S273
Publisher: Kluwer Academic Publ
Issue Date: 2008
ISSN: 0141-8955
Statement of
R. J. Mackay, D. Bratkovic, R. Couper, G. P. Davidson, R. Fahy, J. M. Fletcher and E. Ranieri
Abstract: Two neonates were identified at age 48 h by expanded newborn screening, with abnormal methionine and tyrosine concentrations, which were confirmed on repeat samples. Evidence of previously unsuspected liver disease was found at recall, and there was radiological and biochemical evidence of severe liver disease with hepatic synthetic failure. After inborn errors of metabolism (IEMs) were excluded, both were considered to have neonatal haemochromatosis, on the basis of raised ferritin, iron saturation, and very high ╬▒-fetoprotein and confirmed by a mildly hyperferritinaemic sibling in the first case, and raised ferritin and iron saturation in the second. However, it was not feasible to obtain tissue confirmation as the requirement for early therapy precluded biopsy. The babies were treated with antioxidants and iron-chelating agents, and the coagulopathy and hypoalbuminaemia were corrected. Both made a complete recovery and remain well after follow-up. Newborn screening programmes could consider advising clinicians, when tyrosine and methionine values are elevated, that once IEMs are excluded liver disease from other causes must be sought. Neonatal haemochromatosis is an example of one such disease that is potentially treatable.
Keywords: Liver
Blood Coagulation Disorders
Amino Acid Metabolism, Inborn Errors
Iron Chelating Agents
Diagnosis, Differential
Neonatal Screening
Treatment Outcome
Predictive Value of Tests
Infant, Newborn
Tandem Mass Spectrometry
DOI: 10.1007/s10545-008-0842-9
Appears in Collections:Aurora harvest
Paediatrics publications

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