Metabolic acidosis is a common acute presentation of an inborn error of metabolism (IEM), particularly in the presence of elevated anion gap. Acidosis can also be seen as a result of...
Pregnancy history: maternal HELLP syndrome; acute fatty liver of pregnancy; preeclampsia; reduced fetal movements; intrauterine growth retardation (IUGR); fetal bradycardia
Family hist...
Stop feeding.
Provide 6 to 10 mg/kg/min dextrose (typically as D10 at 1.5 to 2 times maintenance rate).
If considering pyruvate dehydrogenase deficiency, use lower dextrose inf...
Refer to a biochemical genetics team for ongoing evaluation and management.
Generally, patients will require frequent monitoring in the newborn p...
Burton BK. Inborn errors of metabolism in infancy: a guide to diagnosis. Pediatrics. 1998;102(6):E69. [View Abstract on OvidInsights]
Cook P, Walker V. Investigation of the chi...
775.7 Late metabolic acidosis of newborn
277.89 Other specified disorders of metabolism
270.6 Disorders of urea cycle metabolism
271.8 Other specified disorders of carbohydrate transport and me...
Q: What factors determine developmental outcome in children with IEMs?
A: The specific diagnosis and patient mutation, how rapidly appropriate therapy is initiated, frequency of decompensating, and...
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