J Pediatr Genet 2019; 08(03): 133-136
DOI: 10.1055/s-0039-1691789
Original Article
Georg Thieme Verlag KG Stuttgart · New York

Investigation of L-Carnitine Concentrations in Treated Patients with Maple Syrup Urine Disease

Burcu Kumru
1  Division of Nutrition and Diet, Gaziantep Cengiz Gökçek Maternity and Children's Hospital, Gaziantep, Turkey
Burcu Oztürk Hismi
2  Division of Pediatric Metabolism and Nutrition, Tepecik Training and Research Hospital, Izmir, Turkey
› Author Affiliations
Further Information

Publication History

29 July 2018

16 April 2019

Publication Date:
28 May 2019 (online)


Maple syrup urine disease (MSUD), also known as branched-chain α ketoaciduria, is a metabolic disorder caused by an inborn deficiency in the activity of the branched-chain α-ketoacid dehydrogenase complex. Severe neurological damage occurs in most patients with MSUD although the exact mechanism of neurotoxicity still remains unknown. Studies have suggested that neuropathology in patients with MSUD may be related to oxidative stress. L-carnitine mediates the transport of fatty acids into the mitochondria that are required for β-oxidation and ATP production. Along with the important roles it plays in lipid metabolism, L-carnitine also protects tissues from oxidative damage through its antioxidant properties. The study included a total of 15 patients with MSUD who attended regular follow-up visits, and 15 age-matched healthy control subjects, and aimed to investigate L-carnitine levels in treated patients with MSUD and healthy control subjects. L-carnitine levels were found to be significantly lower in the patient group than in the healthy controls. No significant correlation was identified between the plasma branched-chain amino acids leucine, isoleucine, valine, and L-carnitine levels. Patients with MSUD can be treated with adjuvant therapy with L-carnitine supplementation.