Detection of treatable neonatal liver disease by expanded newborn screening.
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.
Department of Genetic Medicine, Women's and Children's Hospital, Adelaide, South Australia, Australia. richard.mackay@cdhb.govt.nz
R J
RJ
Mackay
D
D
Bratkovic
R
R
Couper
G P
GP
Davidson
R
R
Fahy
J M
JM
Fletcher
E
E
Ranieri
D000592:Amino Acid Metabolism, Inborn Errors / Q000175:diagnosis; D000975:Antioxidants / Q000627:therapeutic use; D015415:Biomarkers / Q000097:blood; D001778:Blood Coagulation Disorders / Q000097:blood / Q000175:diagnosis; D003937:Diagnosis, Differential; D005293:Ferritins / Q000097:blood; D006432:Hemochromatosis / Q000097:blood / Q000175:diagnosis* / Q000188:drug therapy; D006801:Humans; D034141:Hypoalbuminemia / Q000097:blood / Q000175:diagnosis; D007231:Infant, Newborn; D007501:Iron / Q000097:blood; D007502:Iron Chelating Agents / Q000627:therapeutic use; D008099:Liver / Q000378:metabolism*; D008297:Male; D008715:Methionine / Q000097:blood*; D015997:Neonatal Screening / Q000379:methods; D011237:Predictive Value of Tests; D053719:Tandem Mass Spectrometry; D016896:Treatment Outcome; D014443:Tyrosine / Q000097:blood*; D000509:alpha-Fetoproteins / Q000032:analysis
C097353:AFP protein, human; D000975:Antioxidants; D015415:Biomarkers; D007502:Iron Chelating Agents; D000509:alpha-Fetoproteins; D014443:Tyrosine; D005293:Ferritins; D008715:Methionine; D007501:Iron