Elsevier

Seminars in Neonatology

Volume 7, Issue 1, February 2002, Pages 49-63
Seminars in Neonatology

Regular Articles
Inborn errors presenting with liver dysfunction

https://doi.org/10.1053/siny.2001.0086Get rights and content

Abstract

In neonates, inborn errors of metabolism can produce all the major signs of liver dysfunction  jaundice, coagulopathy, hepatomegaly, splenomegaly, ascites and encephalopathy. The significance of encephalopathy in the neonate is different from that in older patients; it is usually due to a specific abnormality such as hypoglycaemia rather than being a non-specific indicator of liver failure. Attention is focused on five neonatal presentations: unconjugated hyperbilirubinaemia, cholestatic jaundice with otherwise good liver function, severe liver dysfunction (jaundice, coagulopathy persisting after vitamin K, and ascites), hepatomegaly with hypotonia± cardiomyopathy; and hepatosplenomegaly. The metabolic disorders presenting in these ways are listed alongside specific clinical features that can aid differential diagnosis and tests that can be used to confirm or refute the diagnosis. Diagnosis is important because treatment can be dramatically effective, e.g. withdrawal of galactose in galactosaemia. Even when treatment is not effective it is often possible to offer prenatal diagnosis for future pregnancies.

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    Correspondence to: P. T. Clayton MA, MD, FRCP, FRCPCH, Biochemistry Endocrinology and Metabolism Unit, Institute of Child Health, 30 Guilford Street, London WC1N 1EH, UK. Tel: 0207-905-2628; Fax: 0207-404-6191; E-mail:[email protected]

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