The presence of certain clinical findings should cause the clinician to consider the possibility of an inherited metabolic disorder. The clinician may decide to perform screening tests or consult with a pediatric metabolic specialist or clinical chemist.


Clinical findings associated with an inherited metabolic disorder:

(1) a family history of siblings dying early, especially with similar findings

(2) an overwhelming or life-threatening illness in the neonatal period

(3) persistent vomiting, possibly suspected as being pyloric stenosis

(4) acute acidosis

(5) increased anion gap

(6) massive ketosis

(7) deep coma

(8) seizures, especially myoclonic

(9) chronic hiccups

(10) the presence of an unusual odor


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