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Chapter: Paediatrics: Inherited metabolic disease

Paediatrics: General principles of Inherited metabolic disease

Inherited metabolic disease (IMD) may present at any age and the signs and symptoms may result from:

Inherited metabolic disease

 

General principles

 

Inherited metabolic disease (IMD) may present at any age and the signs and symptoms may result from:

   Accumulation of substrate that leads to a toxic effect.

 

   Accumulation of a minor metabolite that in excess is toxic.

 

   Deficiency of a product of a specific reaction.

 

   s metabolic phenomena.

 

The commonest error in managing infants and children with IMD is a delay in diagnosis, and therefore a delay in starting treatment. Failure to recognize an IMD may occur because its clinical features are confusing because of:

   Genetic heterogeneity.

 

   A presenting intercurrent illness.

 

   similarity with other common, acquired conditions where the differential diagnosis has not been fully explored.

 

A useful approach is to consider certain ‘syndromes’ and use this as a framework for investigation (Table 26.1).1 This approach is widely used and should serve the purpose.

 

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Paediatrics: Inherited metabolic disease : Paediatrics: General principles of Inherited metabolic disease |


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