Metabolic syndromes: hepatic syndromes
There are four possible ways in which IMD may present with hepatic involvement.
The liver enlargement associated with IMD is usually persis-tent and not tender. The causes include:
· Glycogen storage disease (GSD) type I: presents in infancy with hypoglycaemia.
• GSD type III: presents in early infancy with failure to thrive, hyperlipidaemia, ketosis during fasting, and deranged liver function.
• GSD VI: hepatic phosphorylase deficiency.
· Hereditary tyrosinaemia type I.
IMD with characteristic, severe liver involvement may present at different ages.
• Infancy: failure to thrive; mild to severe hyperbilirubinaemia; hypoglycaemia; hyperammonaemia; deranged LFTs; bleeding; oedema; ascites.
• Children: presentation with chronic active hepatitis (fatigue, anorexia, hyperbilirubinaemia, tender hepatomegaly), cirrhosis (oedema, gynaecomastia, ascites, clubbing, spider naevi), or neuropsychiatric disease.
• Galactosaemia: hyperbilirubinaemia; haemolytic anaemia; coagulopathy.
• Hepatorenal tyrosinaemia: coagulopathy
• α1-antitrypsin deficiency: jaundice; failure to thrive; intracranial and other haemorrhages.
• Congenital disorders of glycosylation: failure to thrive; chronic vomiting and diarrhoea; seizures; developmental delay.
• GSD type III: skeletal myopathy.
• Gaucher disease type III: massive hepatosplenomegaly; failure to thrive; abdominal protuberance; anaemia; ascites; bleeding diathesis.
· Niemann–Pick disease, type C: neurodegeneration; hepatosplenomegaly.
Wilson disease: onset in adolescence with hepatitis, haemolysis, neuropsychiatric disturbance.