Defect in the type, amount, and toxicity of metabolites that accumulate due to an inherited abnormal pathway in children; result in a variety of clinical findings; >400 human dise...
Disorders may present with either a rapid decompensation or a chronic indolent course
Neonates, initial presentation:
Hypothermia (mitochondrial defects)
IV glucose infusion takes precedence over fluid boluses unless patient in shock. Correction can occur concurrently.
Avoid lactated Ringer solution.
Keep child NP...
Infants and children presenting with new onset of suspected inherited metabolic disease
Significant urinary ketones or not tolerating oral intake
Treat dehydration with normal saline fluid bolus:
Follow glucose level carefully; avoid hypoglycemia.
Use bicarbonate cautiously and only consider if pH <7....
Alfadhel M, Al-Thihli K, Moubayed H, et al. Drug treatment of inborn errors of metabolism: A systematic review. Arch Dis Child. 2013;98(6):454–461. Published Online First: ...
270.6 Disorders of urea cycle metabolism
270.9 Unspecified disorder of amino-acid metabolism
277.9 Unspecified disorder of metabolism
271.9 Unspecified disorder of carbohydrate tr...
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