Inborn Errors of Metabolism

Inborn errors of metabolism are gene defects that result in abnormalities in the synthesis or catabolism of proteins, carbohydrates, or fats, and include¹ :

Fatty acid oxidation defects
Mitochondrial disorders
Disorders of protein metabolism (e.g., amino acidopathies, organic acidopathies, and urea cycle defects)
Disorders of carbohydrate metabolism
Lysosomal storage disorders
Peroxisomal disorders

The incidence is estimated to be 1 in 5000 live births in the United States¹

Metabolic disorders are often the underlying cause of secondary carnitine deficiency²

In premature infants and newborns, secondary carnitine deficiency is defined as plasma carnitine concentrations below age-related normal concentrations³

References: 1. Weiner DL: Pediatrics, inborn errors of metabolism. eMedicine Web site. Available at: http://www.emedicine.com/emerg/topic768.htm. Accessed June 7, 2004. 2. Shannon DW, Wolfe GS: Carnitine deficiency: a missed diagnosis. J Care Manag 1997;3:1-8. 3. Carnitor® (levocarnitine) Tablets, Oral Solution, and Carnitor® SF Sugar-Free Oral Solution package insert.

Inborn errors of metabolism are gene defects that result in abnormalities in the synthesis or catabolism of proteins, carbohydrates, or fats, and include1 :

Metabolic disorders are often the underlying cause of secondary carnitine deficiency2

Inborn errors of metabolism are gene defects that result in abnormalities in the synthesis or catabolism of proteins, carbohydrates, or fats, and include¹ :

Metabolic disorders are often the underlying cause of secondary carnitine deficiency²