Not all patients initially suspected of having an inherited metabolic disorder should undergo a workup, which can be expensive and stressful. The decision to evaluate and the method should be targeted and risk-based.
Clinical Finding
Low Risk
High Risk
developmental delay
none to moderate
marked
delay in speech development
isolated
together with other defects
failure to thrive
none to moderate
moderate to marked
seizures
febrile or with an explanation
unexplained, frequent
infections
none, occasional, mild
family history, fits pattern of defect in host defenses
number of signs and symptoms
isolated
multiple (some may be subtle), especially if typical for inherited metabolic disorder
disease trajectory
stable or improving
progressive
sibling who died with SIDS
patient healthy and asymptomatic
sibling with SIDS had a past history of significant symptoms
where:
• Clinical findings typically associated with an inherited metabolic disorder are listed in 13.28.01.
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