Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: EC:2.3.1.21 (CPT)
 4,580 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Deficiency of carnitine palmitoyltransferase II (CPT II), was found to be the cause of the syndrome of muscle pain and myoglobinuria following strenuous exercise in an otherwise healthy young man. During fasting, serum creatine kinase remained low and ketogenesis was normal. The clearance of a fat emulsion and the activity of extrahepatic lipoprotein lipase was lowered, while the hepatic lipoprotein lipase was normal. A skeletal muscle biopsy did not show abnormal lipid storage. CPT II was deficient in skeletal muscle and leucocytes, while CPT I activity was normal and exhibited normal kinetic properties. CPT I has a higher affinity for palmitoylcarnitine than CPT II, and is more inhibited at increasing palmitoylcarnitine concentrations. In erythrocytes only CPT I is present.
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PMID:Carnitine palmitoyltransferase II deficiency with normal carnitine palmitoyltransferase I in skeletal muscle and leucocytes. 76 93

We describe hepatic carnitine palmitoyltransferase (CPT I) deficiency in three children (a brother and sister and their second cousin) from an extended inbred Hutterite kindred. The patients were first seen between 8 and 18 months of age with recurrent episodes of hypoketotic hypoglycemia accompanied by a decreased level of consciousness and hepatomegaly. One patient had two Reye syndrome-like episodes. Abnormal organic acids were rarely detected in urine. Serum total and free carnitine levels were elevated in all three patients. Fibroblast acyl-coenzyme A dehydrogenase activities were normal in all, but palmitic acid oxidation, performed in fibroblasts from one patient, was less than 10% of control values. Activity of CPT I in cultured skin fibroblasts from the three patients was 10% to 15% of control levels; CPT II activity was normal. Activity of CPT I and CPT II in muscle from one patient was normal. Atypical features in two of these patients were greatly elevated levels of liver enzymes and creatine kinase during acute episodes. The patients have recently been successfully treated with medium-chain triglycerides and avoidance of fasting. Early identification and treatment of this disorder may avert potentially fatal episodes of hypoglycemia.
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PMID:Atypical features of the hepatic form of carnitine palmitoyltransferase deficiency in a Hutterite family. 140 88

Reported cases of carnitine palmitoyltransferase II (CPT II) deficiency are characterized only by a muscular symptomatology in young adults although the defect is expressed in extra-muscular tissues as well as in skeletal muscle. We describe here a CPT II deficiency associating hypoketotic hypoglycemia, high plasma creatine kinase level, heart beat disorders, and sudden death in a 3-mo-old boy. CPT II defect (-90%) diagnosed in fibroblasts is qualitatively similar to that (-75%) of two "classical" CPT II-deficient patients previously studied: It resulted from a decreased amount of CPT II probably arising from its reduced biosynthesis. Consequences of CPT II deficiency studied in fibroblasts differed in both sets of patients. An impaired oxidation of long-chain fatty acids was found in the proband but not in patients with the "classical" form of the deficiency. The metabolic and clinical consequences of CPT II deficiency might depend, in part, on the magnitude of residual CPT II activity. With 25% residual activity CPT II would become rate limiting in skeletal muscle but not in liver, heart, and fibroblasts. As observed in the patient described herein, CPT II activity ought to be more reduced to induce an impaired oxidation of long-chain fatty acids in these tissues.
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PMID:Infantile form of carnitine palmitoyltransferase II deficiency with hepatomuscular symptoms and sudden death. Physiopathological approach to carnitine palmitoyltransferase II deficiencies. 199 98

Six patients with carnitine palmitoyltransferase (CPT) deficiency were diagnosed. Five were males aged 12-48 years and one was a 7-year-old girl. Severe myoglobinuria with renal shut-down led to the diagnosis in four, the main cause of myoglobinuria being prolonged exertion. Other precipitating factors included febrile illnesses, fasting and sleep deprivation. Between attacks, EMG, serum creatine kinase (CK) activity and the response of serum lactate to ischemic exercise were normal in all patients. The diagnosis of CPT deficiency was based on assay of the enzyme by the isotope exchange assay in leukocyte, muscle or cultured skin fibroblast homogenates. CPT activity assayed by the forward assay under standard conditions was normal. CPT deficiency seems to be a common cause of exercise-induced myoglobinuria. Prompt diagnosis can lead to avoidance of risk factors and prevention of rhabdomyolysis and its consequences.
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PMID:Carnitine palmitoyltransferase deficiency: a common cause of recurrent myoglobinuria. 222 62

A stout man was admitted to the hospital with acute rhabdomyolysis associated with macro creatine kinase (macro-CK, EC 2.7.3.2). This anomaly of CK was detected by gel electrophoresis as an atypical band between CK-MB and CK-MM, classified according to Stein's criteria (Clin Chem 1982; 28:19-24) as type 1, and identified by immunofixation electrophoresis as containing CK isoenzymes MM and MB and immunoglobulin A. Muscle biopsy showed that the etiology of rhabdomyolysis in this case was deficiency of carnitine palmitoyltransferase (CPT, EC 2.3.1.21) in the muscle. We report the first observation of macro-CK in a case of CPT deficiency; its presence may result from recurrent rhabdomyolytic attacks owing to CPT deficiency, and may suggest underlying enzymic abnormality in muscle.
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PMID:Macro creatine kinase in a case of carnitine palmitoyltransferase deficiency. 224 93

A 17-year old woman noted myalgia after taking a long distance walk at the age of 10. In adolescence, she had several episodes of myalgia and pigmenturia after athletic activity or infection. At age 17, myoglobinuria and abnormally increased serum creatine kinase were documented after one of these episodes. The neurological examination revealed mild proximal muscle weakness of upper extremities. Electromyography showed myogenic patterns, such as brief, small abundant potentials on them. Venous lactate was raised normally on the ischemic exercise test. During prolonged fasting, plasma ketone bodies increased normally but there were abnormal elevations of plasma creatine kinase and myoglobin. Morphometric analysis of electron microscopy in muscle showed few lipid deposits and that of light microscopy revealed no abnormality. CPT activity in muscle was only 15% of normal value by the isotope-exchange assay. These results were consistent with the diagnosis of CPT deficiency. Although several cases of CPT deficiency with recurrent myoglobinuria have been reported in Western countries, our patients is the first case of Japanese showing recurrent myoglobinuria. CPT deficiency should be considered as a differential diagnosis in cases of recurrent myoglobinuria.
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PMID:[A female case of carnitine palmitoyltransferase deficiency]. 275 69

We describe a case of a limb-girdle myopathy presenting with myoglobinuria. A partial deficiency of muscle carnitine palmitoyltransferase (EC 2.3.1.21) may also have been present. All "muscle-type" serum enzymes were markedly increased (to between 30- and 400-fold their respective upper reference limits) and creatine kinase (EC 2.7.3.2) isoenzyme 2 (CK-MB) was increased 130-fold but was still less than 2% of the total creatine kinase activity. The isoenzyme pattern of lactate dehydrogenase (EC 1.1.1.27) in serum was "anodic," with isoenzyme 1 greater than isoenzyme 2--an unusual pattern for myopathies. The possible physiological basis for such a finding is discussed.
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PMID:Increased serum lactate dehydrogenase isoenzyme 1 and "flipped" LD-1/LD-2 ratio in myopathy associated with partial carnitine palmitoyltransferase deficiency. 367 86

The authors studied a 53 year old woman and her 22 year old son with episodes of paroxysmal muscle cramps and dark urines lasting several hours related to high fat diet and strenuous physical exercise beginning on both at age 14 years. The father, paternal uncle, paternal grandfather and another son of the mother also had paroxysmal muscle cramps. The two studied cases showed normal findings for physical evaluation, blood lactate after ischemic exercise, and muscle histology (light and electron microscopy). The serum creatine kinase was elevated in the son and normal in the mother. However, 72 hour fasting significantly raised the serum creatine kinase level in both cases. Plasma concentration of ketone bodies and acid soluble acyl-carnitine increased normally with prolonged fasting. The biochemical evaluation of the muscle tissue revealed intact anaerobic glycolysis and normal glycogen content but combined partial deficiency of muscle carnitine palmitoyltransferase and carnitine in both cases.
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PMID:Combined partial deficiency of muscle carnitine palmitoyltransferase and carnitine with autosomal dominant inheritance. 743 Oct 28

We describe two male infants with central nervous system disorders, i.e. infantile spasms in one and athetotic quadriplegia in the other, and with recurrent attacks of high plasma creatine kinase levels induced by viral infections. Although carnitine palmitoyltransferase I (CPT I) activity in biopsied muscle was normal in both cases, that of carnitine palmitoyltransferase II (CPT II) was decreased to 37% and 25% of the control value, respectively. Meanwhile, to determine whether or not and how CPT exists in the central nervous system (CNS), we studied animal brain tissues. CPT activity was demonstrated in almost all regions, especially in the brainstem, cerebellum and spinal cord. Although CPT deficiency can be classified into hepatic (CPT I) and muscular (CPT II) presentations, these data suggest that another symptomatology of CPT II deficiency with CNS involvement (brain type?) might exist.
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PMID:Central nervous system disorders and possible brain type carnitine palmitoyltransferase II deficiency. 804 3

Increased serum creatine kinase level is a marker of neuromuscular disorders. When combined with exercise intolerance, muscle cramps, fatigue, myoglobinuria, or muscle weakness, metabolic myopathies of a variety of causes should be considered. We encountered an adolescent male with a persistently high serum creatine kinase level and chronic fatigue who was found to have combined partial defects of carnitine palmitoyltransferase II and mitochondrial complex I. Metabolic myopathy may present with chronic fatigue and a persistently high serum creatine kinase level but without muscle weakness and may be attributable to combined enzyme defects.
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PMID:Combined partial deficiencies of carnitine palmitoyltransferase II and mitochondrial complex I presenting as increased serum creatine kinase level. 1208 89


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