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Long-chain L-3-hydroxyacyl-CoA dehydrogenase – (trifunctional protein) deficiency
Published in William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop, Atlas of Inherited Metabolic Diseases, 2020
William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop
Later episodes are often ushered in with pains in the legs. Rhabdomyolysis leads to myoglobinuria [18]. Patients may first present as adults with exercise-induced muscle pains and rhabdomyolysis. Levels of CK may be very high (15,000–165,000 IU). Examination may reveal profound weakness, little movement, and the assumption of a frog-leg position. Patients can present with chronic progressive polyneuropathy and myopathy without hepatic or cardiac involvement [19].
Human Erythroenzymopathies Of The Anaerobic Embden-Meyerhof Glycolytic And Associated Pathways
Published in Ronald L. Nagel, Genetically Abnormal Red Cells, 2019
Ernst R. Jaffé, William N. Valentine
The clinical features of PFK deficiency, originally described by Tarui et al.43,44 and Layzer et al.,45 are those of prominent myopathy and modest, compensated hemolytic anemia. Muscle biopsies contain increased glycogen, leading to the designation of glycogenosis type VII.46 Myopathic symptoms include muscle weakness, exercise intolerance, and sometimes pain and myoglobinuria attributable to rhabdomyolysis. Symptoms vary widely in severity, probably due to heterogeneity in the molecular lesion and the degree of a sedentary life style. Venous lactate and pyruvate are increased little or not at all during the ischemic exercise tolerance test. Early appearance of gout is another frequently noted clinical manifestation. The latter appears to be secondary to excess purine degradation occurring in exercising muscles deficient in PFK. After forearm exercise, ammonia, inosine, and hy-poxanthine levels in cubital venous blood increase abnormally in subjects with Tarui’s disease.47
Creatine supplementation in sport, exercise and health
Published in Jay R Hoffman, Dietary Supplementation in Sport and Exercise, 2019
Eric S Rawson, Eimear Dolan, Bryan Saunders, Meghan E Williams, Bruno Gualano
Other adverse effects have been theorized and should be discussed before decisions regarding the suitability of this supplement are made. Many of these theoretical concerns relate to the osmolyte activity of creatine. As described previously, creatine is an osmotically-active substance, which increases intracellular fluid content. Anecdotal reports of muscle cramping or injuries resulting from theoretical fluid or electrolyte imbalances have not been supported by controlled trials (47, 66, 107). Cases of rhabdomyolysis have been reported, but these cases are confounded by other well-known causes such as drug use, dehydration, extreme exercise and traumatic injury (107). The effects of creatine supplementation on muscle damage and recovery in response to extreme exercise have been well studied, with no study showing increased muscle damage or dysfunction in creatine loaded subjects (107). In fact, several studies show enhanced recovery or decreased damage and inflammation in creatine supplemented individuals undergoing stressful exercise.
Clinical characteristics of patients admitted to emergency department for the use of ketamine analogues with or without other new psychoactive substances
Published in Clinical Toxicology, 2021
Te-I Weng, Lengsu W. Chin, Lian-Yu Chen, Ju-Yu Chen, Guan-Yuan Chen, Cheng-Chung Fang
The illicit substances detected in the urine samples, and patients’ clinical characteristics are summarized in the Table 1. The drug use pattern of our cases could be categorized as follows: only 2 F-DCK (Case 1), DCK and ketamine (Cases 2–5), and ketamine analogues with cathinones (Cases 6–13). Case 1 was a 23-year-old man with a history of recreational ketamine use. He was brought to the ED because of delirium and palpitations. He recovered consciousness 6 h later and only 2 F-DCK was detected in his urine. Cases 2–5 were patients presenting with delirium in two cases. They recovered in 6–8 h and DCK and ketamine were detected in their urine. Three patients disclosed insufflating or smoking ketamine. Cases 6-13 were patients showing delirium, agitation, and hallucination/delusion (six, three, and two cases, respectively). Tachycardia (pulse rate: >100/min), and hypertension (systolic blood pressure: >140 mmHg) in four, and three cases. Mild rhabdomyolysis was noted in two cases. All patients recovered within 1 day, and ketamine analogues and cathinones were detected in their urine. One patient confessed to ketamine insufflation; six patients reported drinking a beverage using “instant coffee packet,” which is slang for packets comprising drug mixtures sold on the Taiwanese black market.
Refractory rhabdomyolysis responsive to corticosteroid therapy
Published in Baylor University Medical Center Proceedings, 2021
Marissa Hammers, Faris Hashim, Christian Hanna, Amanda Farris, Stephanie Blasick
Rhabdomyolysis can be life threatening due to skeletal muscle breakdown, leading to laboratory abnormalities and kidney injury. When skeletal muscle is broken down, myoglobin is released and can form casts in the kidneys. Intravenous fluids are the predominant treatment to minimize this risk. There are no specific standards regarding the fluid type or rate, though a goal urine output of 200 to 300 mL/h has been recommended.1–3 In addition, the use of sodium bicarbonate remains controversial.1,4 Steroids inhibit vasodilation and the increased vascular permeability that occurs following an insult and decreases leukocyte emigration into inflamed sites.5 Limited data are available regarding the efficacy of steroids in rhabdomyolysis treatment; however, there are case reports documenting the use of steroids in adult patients.6–9
Rhabdomyolysis after recombinant zoster vaccination: a rare adverse reaction
Published in Journal of Community Hospital Internal Medicine Perspectives, 2021
Nishan Rajaratnam, Swati Govil, Rutwik Patel, Mohamed Ahmed, Sameh Elias
Although the exact mechanism of this reaction is not known, we believe an exaggerated immune response to be most likely. Such a potential process has been previously described as Autoimmune/Inflammatory Syndrome Induced by Adjuvants (ASIA). This spectrum of immune-mediated diseases are believed to be caused by exposure to external factors including vaccine ingredients and can lead to inflammatory sequela such as rhabdomyolysis [8,9]. Limitations of this presentation may include that the diagnosis of rhabdomyolysis was made primarily through laboratory and clinical parameters. Given the patient’s response to treatment and resolution of symptoms, a confirmatory test such as muscle biopsy was not performed. In addition, the association between rhabdomyolysis and the vaccination is largely based upon the patient’s history and exclusion of other common precipitating factors such as trauma or immobilization.