title: Sports in LCHAD Deficiency: Maximal Incremental and Endurance Exercise Tests in a 13-Year-Old Patient with Long-Chain 3-Hydroxy Acyl-CoA Dehydrogenase Deficiency (LCHADD) and Heptanoate Treatment.
abstract: Exercise and subsequent catabolism is a potential trigger for creatine kinase (CK) concentration increase (rhabdomyolysis) in patients with LCHADD, therefore we evaluated the clinical and biochemical stability under physical exertion conditions at the age of 13 years in a currently 14-year-old LCHADD patient treated with heptanoate.LCHADD was diagnosed during first decompensation at age 20 months. In the following 2 years, the patient had several episodes of rhabdomyolysis. Heptanoate 0.5-1 g/kg/day was started at 4 years, with no further CK elevations since. He is clinically stable, has retinopathy without vision impairment or polyneuropathy. Maximal incremental and endurance exercise tests were performed to evaluate both clinical and metabolic stability during and after exertion.Physical fitness was adequate for age (maximum blood lactate 7.0 mmol/L, appropriate lactate performance curve, maximum heart rate of 196 bpm, maximum power 139 Watt = 2.68 Watt/kg body weight). There were no signs of clinical (muscle pain, dark urine) or metabolic derangement (stable CK, acyl carnitine profiles, blood gas analyses) - neither after maximal incremental nor endurance exertion.This case illustrates that both under maximal incremental and endurance exertion, clinical and biochemical parameters remained stable in this currently 14-year-old LCHADD patient receiving heptanoate treatment.
authors.affiliation: Division of Inherited Metabolic Disorders, Medical University Innsbruck, Clinic for Pediatrics I, Inherited Metabolic Disorders, Innsbruck, Austria, daniela.karall@i-med.ac.at.
authors.forename: D
authors.initials: D
authors.lastname: Karall
authors.forename: G
authors.initials: G
authors.lastname: Mair
authors.forename: U
authors.initials: U
authors.lastname: Albrecht
authors.forename: K
authors.initials: K
authors.lastname: Niedermayr
authors.forename: T
authors.initials: T
authors.lastname: Karall
authors.forename: W
authors.initials: W
authors.lastname: Schobersberger
authors.forename: S
authors.initials: S
authors.lastname: Scholl-Bürgi