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.
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