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...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.展开更多
Rhabdomyolysis is the breakdown of striated muscle cells resulting in leakage of cell matter into the extra-cellular space.It can present with myalgia,muscle weakness and swelling.Episodes of passing of dark tea-colou...Rhabdomyolysis is the breakdown of striated muscle cells resulting in leakage of cell matter into the extra-cellular space.It can present with myalgia,muscle weakness and swelling.Episodes of passing of dark tea-coloured urine have also been reported.Raised creatinine kinase is diagnostic of rhabdomyolysis.Raised serum myoglobin levels and presence of myoglobin in the urine (myoglobinuria) help to support the diagnosis.The actiology for rhabdomyolysis can be both traumatic and non-traumatic.In the case of trauma,individuals with crush injuries trapped in cars or under collapsed buildings,struggling against restraints,immobilized and in the same position for hours due to injuries,comatosed states or positioning during prolonged surgeries and those with high voltage electrical injuries are at increased risk of rhabdomyolysis.Non-traumatic causes of rhabdomyolysis include hyperthermia,metabolic myopathies,drugs and toxins ingestions,clectrolyte abnormalities and infections.The mechanism of rhabdomyolysis is often multifactorial.In the case of trauma,direct injury to cell membranes as well as hypoxia from direct compression leading to adenosine triphosphate depletion leads to breakdown of striated muscle cells..The lysed cells release myoglobin,creatine kinase,urate and phosphate into the interstitium.Direct heme protein-induced toxicity on nephrons can result in acute kidney injury.We report a case of traumatic rhabdomyolysis and share the latest in the literature on the understanding of the subject as well as that of myoglobinuria.with which it is often associated with.展开更多
文摘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.
文摘Rhabdomyolysis is the breakdown of striated muscle cells resulting in leakage of cell matter into the extra-cellular space.It can present with myalgia,muscle weakness and swelling.Episodes of passing of dark tea-coloured urine have also been reported.Raised creatinine kinase is diagnostic of rhabdomyolysis.Raised serum myoglobin levels and presence of myoglobin in the urine (myoglobinuria) help to support the diagnosis.The actiology for rhabdomyolysis can be both traumatic and non-traumatic.In the case of trauma,individuals with crush injuries trapped in cars or under collapsed buildings,struggling against restraints,immobilized and in the same position for hours due to injuries,comatosed states or positioning during prolonged surgeries and those with high voltage electrical injuries are at increased risk of rhabdomyolysis.Non-traumatic causes of rhabdomyolysis include hyperthermia,metabolic myopathies,drugs and toxins ingestions,clectrolyte abnormalities and infections.The mechanism of rhabdomyolysis is often multifactorial.In the case of trauma,direct injury to cell membranes as well as hypoxia from direct compression leading to adenosine triphosphate depletion leads to breakdown of striated muscle cells..The lysed cells release myoglobin,creatine kinase,urate and phosphate into the interstitium.Direct heme protein-induced toxicity on nephrons can result in acute kidney injury.We report a case of traumatic rhabdomyolysis and share the latest in the literature on the understanding of the subject as well as that of myoglobinuria.with which it is often associated with.
