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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, 5^th ed, Fleisher GR, Ludwig S, Henretig FM (Eds), Lippincott, Williams & Wilkins, Philadelphia 2006. p.1193.

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