Long-chain fatty acid oxidation disorders

Roe DS, Yang BZ, Vianey-Saban C, Struys E, Sweetman L, Roe CR (2006) Differentiation of long-chain fatty acid oxidation disorders using alternative precursors and acylcarnitine profiling in fibroblasts. Mol Genet Metab 87 40-47... 

THE USE OF [9,10- MYMSTATE, [9,10- H]PALMITATE AND [9,10- ]OLEATE FOR THE DETECTION AND DIAGNOSIS OF MEDIUM AND LONG-CHAIN FATTY ACID OXIDATION DISORDERS IN INTACT CULTURED FIBROBLASTS... 

The Detection and Diagnosis of Medium and Long-Chain Fatty Acid Oxidation Disorders... 

L-camitine is given in many metabohc disorders as a supplement or to correct a carnitine deficiency. The dose of carnitine can vary between 50 and 100 mg/kg/day, and in some organic acidurias, as much as 200-300 mg/kg/24 days may be necessary, hi some of the long-chain fatty acid oxidation disorders, use of carnitine is controversial, and in the view of potential adverse effects (formation of car-diotoxic acylcamitines), supplementation at time of metabolic decompensation should be avoided [18]. 

Symptoms of cardiac or skeletal muscle dysfunction pose problems, particularly for patients with long-chain fatty acid oxidation disorders. 

Box 24.2 Initiating Nutrition Management in a Patient with a Long-Chain Fatty Acid Oxidation Disorder... 

---