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Tytuł:
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Detection of treatable neonatal liver disease by expanded newborn screening.
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Autorzy:
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Mackay RJ; Department of Genetic Medicine, Women's and Children's Hospital, Adelaide, South Australia, Australia. />Bratkovic D
Couper R
Davidson GP
Fahy R
Fletcher JM
Ranieri E
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Źródło:
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Journal of inherited metabolic disease [J Inherit Metab Dis] 2008 Dec; Vol. 31 Suppl 2, pp. S271-3. Date of Electronic Publication: 2008 Oct 15.
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Typ publikacji:
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Case Reports; Journal Article
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Język:
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English
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Imprint Name(s):
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Publication: 2019- : [Hoboken, NJ] : Wiley
Original Publication: [Lancaster, Eng.] MTP Press.
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MeSH Terms:
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Neonatal Screening*/methods
Hemochromatosis/*diagnosis
Liver/*metabolism
Methionine/*blood
Tyrosine/*blood
Amino Acid Metabolism, Inborn Errors/diagnosis ; Antioxidants/therapeutic use ; Biomarkers/blood ; Blood Coagulation Disorders/blood ; Blood Coagulation Disorders/diagnosis ; Diagnosis, Differential ; Ferritins/blood ; Hemochromatosis/blood ; Hemochromatosis/drug therapy ; Humans ; Hypoalbuminemia/blood ; Hypoalbuminemia/diagnosis ; Infant, Newborn ; Iron/blood ; Iron Chelating Agents/therapeutic use ; Male ; Predictive Value of Tests ; Tandem Mass Spectrometry ; Treatment Outcome ; alpha-Fetoproteins/analysis
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References:
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J Pediatr. 2000 Apr;136(4):537-41. (PMID: 10753255)
Arch Dis Child Fetal Neonatal Ed. 2003 Mar;88(2):F124-7. (PMID: 12598501)
Lancet. 2004 Nov 6-12;364(9446):1690-8. (PMID: 15530630)
Hepatology. 2006 Apr;43(4):654-60. (PMID: 16557536)
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Substance Nomenclature:
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0 (AFP protein, human)
0 (Antioxidants)
0 (Biomarkers)
0 (Iron Chelating Agents)
0 (alpha-Fetoproteins)
42HK56048U (Tyrosine)
9007-73-2 (Ferritins)
AE28F7PNPL (Methionine)
E1UOL152H7 (Iron)
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SCR Disease Name:
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Neonatal hemochromatosis
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Entry Date(s):
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Date Created: 20081016 Date Completed: 20120111 Latest Revision: 20190114
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Update Code:
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20240104
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DOI:
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10.1007/s10545-008-0842-9
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PMID:
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18855117
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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 α-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.