Case Report: Carnitine Palmitoyl Transferase II (CPT II) Deficiency

Carnitine Palmitoyl Transferase II (CPTII) is a very important enzyme that helps with the oxidation of long-chain fatty acid to produce energy. Deficiency in CPTII will lead to energy deficiency in the case of fasting and the accumulation of the long chain fatty in the body. There are three types of CPT II deficiency, the myopathic form, the severe infantile hepatocardiomuscular form and the lethal neonatal form. They are all inherited as an autosomal recessive. Diagnosis of the CPTII are 1) tandem mass spectrometry (MS/MS) in adult form and 2) CPTII polymorphism (F352C), which is linked to reducing the activity of CPTII in infantile form [1]. Glucose is the primary management and medium-chain fatty acid is an alternative due to the bypass of the CPTII enzyme in the pathway. For the prevention of CPTII deficiency are to avoid long chain fatty acid (C12-fatty acid), fasting, prolonged exercise, known triggers, and certain medications such as anti-epileptics and general anesthesia. During the rhabdomyolysis and myoglobinuria attack, it is very important to maintain hydration to avoid acute renal failure. If, however, renal failure occurs, dialysis is recommended. We present a case of a 27-year-old African American woman with the significant past medical history of CPT II deficiency leading to recurrent rhabdomyolysis and myoglobinuria. Together with all the research studies from diagnosis to treatment of CPTII deficiency will help in clinical management of patients. And this case report will add to the existing case reports of patients who have CPTII deficiency in terms of how we diagnose, how we treat, and how we prevent symptoms from re-occurring.

Changes of the liver metabolome following an intravenous lipopolysaccharide injection in Holstein cows supplemented with dietary carnitine

Background:Carnitine facilitates the flux of long-chain fatty acids for hepatic mitochondrial beta-oxidation,which acts to ameliorate the negative energy balance commonly affecting high-yielding dairy cows.Inflammation triggered by lipopolysaccharide(LPS)load can however pose a challenge to the metabolic integrity via the expression of pro-inflammatory mediators,leading to immune system activation and respective metabolic alterations.The effect of enhanced carnitine availability on hepatic metabolome profiles during an inflammatory challenge has not yet been determined in dairy cows.Herein,Holstein cows were supplemented with 25 g/d rumen-protected carnitine from 42d prepartum until 126 d postpartum(n=16)or assigned to the control group with no supplementation during the same period(n=14).We biopsied the liver of the cows before(100 d postpartum)and after(112 d postpartum)an intravenous injection of 0.5μg/kg LPS.Liver samples were subjected to a targeted metabolomics analysis using the AbsoluteIDQ p180 Kit(Biocrates Life Sciences AG,Innsbruck,Austria).Results:Multivariate statistical analyses revealed that hepatic metabolome profiles changed in relation to both the carnitine supplementation and the LPS challenge.Comparing the metabolite profiles on 100 d,carnitine increased the concentration of short-and long-chain acyl-carnitines,which may be explained by an enhanced mitochondrial fatty acid shuttle and hence greater energy availability.The LPS injection affected hepatic metabolite profiles only in the carnitine supplemented group,particularly altering the concentration of biogenic amines.Conclusions:Our results point to interactions between an acute hepatic inflammatory response and biogenic amine metabolism,depending on energy availability.