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