Fanin, M., Anichini, A., Cassandrini, D., Fiorillo, C., Scapolan, S., Minetti, C., Cassanello, M., Donati, M.A., Siciliano, G., D’Amico, A., Lilliu, F., Bruno, C. and Angelini C. (2012) Allelic and Phenotypic Heterogeneity in 49 Italian Patients with the Muscle Form of CPT-II Deficiency. Clinical Genetics, 82, 232-239.
https://pubmed.ncbi.nlm.nih.gov/21913903-allelic-and-phenotypic-heterogeneity-in-49-italian-patients-with-the-muscle-form-of-cpt-ii-deficiency/

has been cited by the following article:

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

  AUTHORS: Kathy Po, Marius Chivu, Edwin Rosas, Balpreet Kaur

  KEYWORDS: Carnitine Palmitoyl Transferase II (CPTII), Mitochondria, Long Chain Fatty Acid, Medium Chain Fatty Acid, Carnitine, Carnitine Palmitoyl Transferase I (CPTI), Acyl-Carnitine, Beta-Oxidation, Rhabdomyolysis, Myoglobinuria, Renal Failure, Hypoketotic Hypoglycemia

  JOURNAL NAME: Open Journal of Internal Medicine, Vol.14 No.1, February 29, 2024

  ABSTRACT: 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.