Recurrent Myoglobinuria

09/01/1997 - "A 23-year-old man with recurrent myoglobinuria had low muscle-free carnitine levels and deficient fasting ketogenesis. "
08/01/1977 - "Recurrent myoglobinuria and muscle carnitine palmityltransferase deficiency."
11/20/1973 - "Muscle carnitine palmityltransferase activity, measured by three different methods, was very low (0 to 20 percent of controls) in a patient with a familial syndrome of recurrent myoglobinuria. "
05/01/1987 - "[Recurrent myoglobinuria caused by carnitine-palmityl-transferase deficiency]."
05/01/1978 - "Recurrent myoglobinuria due to muscle carnitine palmityl transferase deficiency."

05/14/2013 - "Recurrent myoglobinuria and deranged acylcarnitines due to a mutation in the mtDNA MT-CO2 gene."
09/12/2000 - "Mutations in mtDNA-encoded COX genes should be considered in patients with recurrent myoglobinuria."
01/01/1998 - "Multiple mtDNA deletions have been reported to be a cause of inherited recurrent myoglobinuria. "
04/01/1991 - "We propose that a defect of the mitochondrial energy-transducing system due to multiple mitochondrial DNA deletions is a novel genetic cause of inherited recurrent myoglobinuria."
04/01/1991 - "Mitochondrial DNA deletions in inherited recurrent myoglobinuria."

01/01/1996 - "[Recurrent myoglobinuria in a girl due to carnitine palmitoyltransferase deficiency]."
06/01/1994 - "After the onset of recurrent myoglobinuria when she was 16 years old, deficiency of carnitine palmitoyltransferase type II (32% residual activity) was diagnosed on the basis of cultured skin fibroblasts. "
07/01/1993 - "Identification of a common mutation in the carnitine palmitoyltransferase II gene in familial recurrent myoglobinuria patients."
09/01/1990 - "Carnitine palmitoyltransferase deficiency: a common cause of recurrent myoglobinuria."
07/01/1987 - "Exercise-induced recurrent myoglobinuria: defective activity of inner carnitine palmitoyltransferase in muscle mitochondria of two patients."

09/01/1991 - "This appears to be the first report of CPT deficiency with recurrent myoglobinuria in two generations (so-called quasidominant transmission)."
03/01/1989 - "CPT deficiency should be considered as a differential diagnosis in cases of recurrent myoglobinuria."
03/01/1989 - "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. "
07/08/1983 - "It is concluded that muscular CPT deficiency must be excluded before a recurrent myoglobinuria is classified as "idiopathic"."
09/01/1980 - "CPT deficiency causes recurrent myoglobinuria, usually precipitated by prolonged exercise or fasting. "

05/01/1987 - "[Recurrent myoglobinuria caused by carnitine-palmityl-transferase deficiency]."
05/01/1978 - "Recurrent myoglobinuria due to muscle carnitine palmityl transferase deficiency."
06/21/2023 - "Carnitine palmitoyl transferase 2 (CPT II) deficiency is one of the most common causes of recurrent myoglobinuria in adults. "
05/01/2014 - "Carnitine palmitoyl transferase II (CPT II) deficiency is a lipidosis and is a common cause of inherited recurrent myoglobinuria. "
01/01/2013 - "Carnitine palmityl transferase (CPT) deficiency is the most frequent metabolic myopathy and should be considered whenever recurrent myoglobinuria is suspected, and distinguished from the second frequent one, McArdle disease. "

02/25/2005 - "Recurrent myoglobinuria due to carnitine palmitoyltransferase II deficiency: clinical, biochemical, and genetic features of adult-onset cases."
03/01/1996 - "Recurrent myoglobinuria due to carnitine palmitoyltransferase II deficiency: expression of the molecular phenotype in cultured muscle cells."
08/01/2005 - "Carnitine palmitoyltransferase II (CPT II) deficiency is an autosomal recessive disorder which presents with recurrent myoglobinuria. "
06/21/2023 - "Carnitine palmitoyl transferase 2 (CPT II) deficiency is one of the most common causes of recurrent myoglobinuria in adults. "
05/01/2014 - "Carnitine palmitoyl transferase II (CPT II) deficiency is a lipidosis and is a common cause of inherited recurrent myoglobinuria. "

09/01/1984 - "A new phosphoglycerate kinase variant (PGK New Jersey) has been purified from muscle and cultured fibroblasts of a patient with recurrent myoglobinuria. "
03/28/2006 - "A 33-year-old man with mental retardation and recurrent myoglobinuria demonstrated a deficiency in the phosphoglycerate kinase 1 (PGK1) activity of his muscles and erythrocytes. "
05/01/1992 - "We performed MRS on a 15 year-old mentally retarded male patient with recurrent myoglobinuria due to phosphoglycerate kinase (PGK) deficiency. "
02/01/1993 - "Biochemical analysis of muscle in a 37-year-old man with exercise intolerance, myalgia, recurrent myoglobinuria, and retinitis pigmentosa showed phosphoglycerate kinase (PGK) deficiency. "

02/01/2000 - "Very-long-chain acyl-coenzyme A dehydrogenase (VLCAD) deficiency is an increasingly recognized defect of mitochondrial fatty acid beta-oxidation manifesting with episodes of metabolic decompensation or isolated recurrent myoglobinuria. "
10/01/2015 - "One large group of hereditary myopathies characterized by recurrent myoglobinuria, almost invariably triggered by exercise, comprises metabolic disorders of two main fuels, glycogen and long-chain fatty acids, or mitochondrial diseases of the respiratory chain. "
12/01/2002 - "Fatty acid oxidation defects encompass a spectrum of clinical disorders, including recurrent hypoglycemic, hypoketotic encephalopathy or Reye-like syndrome in infancy with secondary seizures and potential developmental delay, progressive lipid storage myopathy, recurrent myoglobinuria, neuropathy, and progressive cardiomyopathy. "
01/01/2013 - "Recognition of fatty acid oxidation (FAO) disorders is important for the pediatric neurologist as they present with a spectrum of clinical disorders, including progressive lipid storage myopathy, recurrent myoglobinuria, neuropathy, progressive cardiomyopathy, recurrent hypoglycemic hypoketotic encephalopathy or Reye-like syndrome, seizures, and mental retardation. "

11/30/2016 - "High serum creatine kinase (CK) levels, recurrent exercise-related muscle symptoms, and a previous history of recurrent myoglobinuria raised the suspicion of an underlying neuromuscular condition. "
03/01/2012 - "Although there was heterogeneity in the severity of symptoms, there were four common diagnostic features: (1) 99.5% of patients reported a history of acute crises of exercise intolerance (accompanied by recurrent myoglobinuria in 50% of cases); (2) in 58% of patients, symptoms started in the first decade of life; (3) 86% of patients repeatedly experienced the 'second wind' phenomenon over life; and (4) 99% of patients had a high basal serum level of total creatine kinase (>200 U/l). "
01/01/2013 - "Main symptoms are exercise intolerance with myalgias, cramps and recurrent myoglobinuria or limb weakness associated with elevation of serum creatine kinase. "
10/01/1988 - "Eight patients had painful sensorimotor peripheral neuropathy; two, chronic inflammatory demyelinating polyneuropathy; two, mononeuropathy or mononeuropathy multiplex; one, recurrent myoglobinuria; and one, chronic proximal weakness and elevated creatine kinase levels. "

05/01/1997 - "The triad of CNS involvement, recurrent myoglobinuria, and ragged-red fibers should alert clinicians to the possibility of CoQ10 deficiency."
12/01/1999 - "Another respiratory chain defect, primary coenzyme Q10 (CoQ10) deficiency, also causes exercise intolerance and recurrent myoglobinuria, usually in conjunction with brain symptoms, such as seizures or cerebellar ataxia. "
01/01/2008 - "Deficiencies of CoQ10 (MIM 607426) have been associated with four major clinical phenotypes: 1) encephalomyopathy characterized by a triad of recurrent myoglobinuria, brain involvement, and ragged-red fibers; 2) infantile multisystemic disease typically with prominent nephropathy and encephalopathy; 3) cerebellar ataxia with marked cerebellar atrophy; and 4) pure myopathy. "
04/10/2001 - "Muscle CoQ10 deficiency has been reported only in a few patients with a mitochondrial encephalomyopathy characterized by 1) recurrent myoglobinuria; 2) brain involvement (seizures, ataxia, mental retardation), and 3) ragged-red fibers and lipid storage in the muscle biopsy. "