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Distinguishing biochemical findings of inborn errors of metabolism*

Distinguishing biochemical findings of inborn errors of metabolism*
Findings Maple syrup urine disease Organic acidemias Urea cycle defects Disorders of carbohydrate metabolism Fatty acid oxidation disorders Mitochondrial disorders Peroxisomal disorders Lysosomal storage disorders
Metabolic acidosis ± ++ - ± ± ± - -
Respiratory alkalosis - - + - - - - -
Hyperammonemia ± + ++ - ± - - -
Hypoglycemia ± ± - + + ± - -
Ketones A/H H A A/H A/L A/H A A
Lactic acidosis ± ± - + ± ++ - -
-: usually absent; ±: sometimes present; +: usually present; ++: always present; A: appropriate production of ketones for the degree of hypoglycemia (eg, ketones are appropriately absent in peroxisomal disorders because hypoglycemia is not a feature of these disorders); H: inappropriately high (eg, 4+ ketones are inappropriately high in the setting of a normal glucose level); L: inappropriately low (eg, ketones are inappropriately low if the blood glucose is <20 mg/dL and the urine ketones are only 1+ or 2+ because they should be significantly elevated in the setting of such extreme hypoglycemia).
* Within disease categories, not all diseases have all findings; for disorders with episodic decompensation, clinical and laboratory findings may be present only during acute crisis; for progressive disorders, findings may not be present early in the course of disease.
Adapted from: Weiner DL. Metabolic Emergencies. In: Textbook of Pediatric Emergency Medicine, 5th ed, Fleisher GR, Ludwig S, Henretig FM (Eds), Lippincott, Williams & Wilkins, Philadelphia 2006. p.1193.
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