This prompted us to perform a systematic review of the existing case reports in the literature to ascertain the most frequent patterns of organ involvement and assess the outcomes that are seen in these patients. Seven patients with CPT II deficiency were studied from 7 to 61 months on the triheptanoin (anaplerotic) diet. Genetics home reference. Carnitine palmitoyltransferase (CPT) deficiency is a very rare condition that causes muscle weakness and other symptoms. Genetic testing (molecular analysis) confirmed the diagnosis of inherited rhabdomyolysis, a metabolic disorder of carnitine palmitoyltransferase II deficiency. The author(s) received no financial support for the research, authorship, and/or publication of this article. Management of acute rhabdomyolysis in the context of CPT2 deficiency comprises of: IV glucose administration: The primary acute treatment is to supply adequate glucose to prevent adipose tissue lipolysis3,19–21 (see Figure 1). Some society journals require you to create a personal profile, then activate your society account, You are adding the following journals to your email alerts, Did you struggle to get access to this article? On admission his temperature was 38.2℃, heart rate 60 bpm sinus rhythm, respiratory rate 16 per minute, blood pressure 141/87 mmHg, and O2 saturations 97% on room air. 10% glucose IV infusion 2 mg/kg/h was started within 4 h of admission. This systematic review was performed in accordance with the Preferred Reporting Items for Systematic Review and Meta-Analysis (PRISMA) statement recommendations.29 The study protocol was registered to PROSPERO (registration ID: CRD42019123686). 2005 Mar;45(3):596-602. doi: 10.1053/j.ajkd.2004.12.006. Hypoglycaemia only occurs at relatively late stages; bedside testing for glucose should not be relied on, and treatment with IV glucose should not be delayed due to a normal blood glucose.3. What modalities of organ support are required for these patients? ABSTRACT Introduction: Inherited metabolic disorders are the most common causes of recurrent rhabdomyolysis in adults and children. A Japanese adult form of CPT II deficiency associated with a homozygous F383Y mutation. Conclusions: Figure 1. Its genetic basis has been recognized; but histopathologic changes, especially electron microscopic changes, have scarcely been described. PRISMA: Preferred Reporting Items for Systematic Review and Meta-Analysis. Current treatment includes dietary fat restriction, with increased carbohydrate intake and exercise restriction to avoid muscle pain and rhabdomyolysis. RESERVED IU-AR. The author summarizes the clinical features of the disease and reviews pilot studies on bezafibrate and triheptanoin treatment that revealed uncertain therapeutic effects. Supplemental material for this article is available online. These comprised of 18 case reports and one case series; the case series included one patient who met the inclusion criteria. Rhabdomyolysis, Critical Care Guidelines 2016 (updated 2019), Critical Care Unit, West Suffolk Hospital NHS Foundation Trust, Bury St Edmunds, UK (accessed February 2019). Among the few people diagnosed with CPT2, some have unknown and/or novel mutations that place them outside these three categories while remaining positive for CPT2. While on the diet, only two patients experienced mild muscle pain with exercise. Long-term experience with triheptanoin in 12 Austrian patients with long-chain fatty acid oxidation disorders. He had diffuse mild abdominal tenderness, and his urine was visibly dark. Please enable it to take advantage of the complete set of features! Enzymes are substances in the body that help cause chemical reactions. There are three main types of CPT2 deficiency: a lethal neonatal form, a severe infantile hepatocardiomuscular form, and a myopathic form. You can be signed in via any or all of the methods shown below at the same time. Partial muscle carnitine palmitoyltransferase-A deficiency. Carnitine palmitoyltransferase II (CPT-II) deficiency is an autosomal recessively inherited disorder involving the β-oxidation of long-chain fatty acids, which leads to rhabdomyolysis and subsequent acute renal failure. Signs and symptoms … CPT II deficiency is regarded as a preventable cause of recurrent rhabdomyolysis. All patients returned to normal physical activities including strenuous sports. Deutsch, M, Vassilopoulos, D, Sevastos, N. Gjorgjievski, N, Dzekova-Vidimliski, P, Petronijevic, Z. Joussain, C, Lamireau, D, Espil-Taris, C. View or download all content the institution has subscribed to. Abdominal ultrasound scanning showed that his liver was diffusely hyperechoic, in keeping with fatty infiltration. The myopathic form presents most frequently in children or young adults with muscle pain with or, in most cases, without myoglobinuria with elevation of serum creatine kinase precipitated by strenuous exercise, cold, fever, or prolonged fasting. Sharing links are not available for this article. Would you like email updates of new search results? The only associated symptoms were darkening of his urine and fevers. Kaneoka H, Uesugi N, Moriguchi A, Hirose S, Takayanagi M, Yamaguchi S, Shigematsu Y, Yasuno T, Sasatomi Y, Saito T. Am J Kidney Dis. The triheptanoin diet seems to be an effective therapy for adult-onset carnitine palmitoyltransferase II deficiency. Carnitine palmitoyltransferase II (CPT II) deficiency is an important cause of recurrent rhabdomyolysis in children and adults. Previous episodes were triggered by exercise, presenting with muscle aches in his arms and stomach, followed by darkening of his urine. Full details of the search terms can be found in Supplementary Figure 5. Adult patients deficient in carnitine palmitoyltransferase II (CPT II) cannot generate sufficient amounts of energy, which results in rhabdomyolysis and acute renal failure (ARF). Of the 19 patients, the mean age was 25.3 years (standard deviation 13.6, range 3–47 years). An infusion of Hartman’s solution at a rate of 400 mL/h was added. Mitochondrial Fatty Acid Oxidation Disorders: Laboratory Diagnosis, Pathogenesis, and the Complicated Route to Treatment. Adult patients deficient in carnitine palmitoyltransferase II (CPT II) cannot generate sufficient amounts of energy, which results in rhabdomyolysis and acute renal failure (ARF). After identification of eligible articles, data regarding patient demographics, suspected triggers, biochemical investigations, medical management of the patient, and patient outcomes in terms of in-hospital mortality were extracted. Epub 2020 Sep 22. The adult form of CPT2 deficiency is usually "benign", characterized by episodes of rhabdomyolysis without extramuscular manifestations and with a good outcome, while the infantile type characteristically presents with severe metabolic symptoms such as hypoketotic hypoglycemia. Following thrombolysis for massive p... Reconsidering critical illness as an uncharacterised acquired disorder.... Reconsidering critical illness as an uncharacterised acquired mitochondrial disorder deficiency and glycogen storage type. Hartman ’ s solution at a rate of residual renal dysfunction at discharge was described data to research. 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