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Chapter: Paediatrics: Inherited metabolic disease

Paediatrics: Metabolic syndromes: hepatic syndromes

There are four possible ways in which IMD may present with hepatic involvement.

Metabolic syndromes: hepatic syndromes

 

There are four possible ways in which IMD may present with hepatic involvement.

 

Jaundice Hepatomegaly

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.

 

Hypoglycaemia

 

Hepatocellular dysfunction

 

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.

 

Some causes with distinguishing features in infancy

 

   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.

 

Some causes with distinguishing features in childhood

 

   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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Paediatrics: Inherited metabolic disease : Paediatrics: Metabolic syndromes: hepatic syndromes |


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