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Results for “Myoglobinuria”

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At least 55 records · Page 3Linked to original sources
PubMed1983

Phosphoglycerate kinase deficiency: another cause of recurrent myoglobinuria.

A 14-year-old boy had myoglobinuria and renal failure after intense exercise; a year earlier he had experienced a milder episode. There was no consanguinity and no family history of neuromuscular diseases or hemolytic anemia. Strength was normal. Forearm ischemic exercise caused prolonged contracture with no rise of venous lactate. Muscle morphology showed only a mild increase of lipid droplets. Glycogen concentration was normal. Muscle phosphoglycerate kinase (PGK) activity was 5% of the normal mean, and all other glycolytic enzymes were normal. The residual PGK activity of muscle was heat stable but showed slower than normal electrophoretic mobility and decreased Michaelis constants for 3-phosphoglycerate and adenosine triphosphate. The enzyme defect was also expressed in erythrocytes and in fibroblast and muscle cultures. PGK activity was decreased in tissues from the patient's mother but normal in the father. PGK deficiency is an X-linked recessive trait usually associated with hemolytic anemia, mental retardation, and seizures; myopathy had not been recognized previously. Muscle PGK deficiency is now added to two other newly recognized glycolytic defects, phosphoglycerate mutase and lactate dehydrogenase deficiencies, as a cause of recurrent myoglobinuria.

Acute Kidney Injury↗
PubMed2006

Exercise-induced cramp, myoglobinuria, and tubular aggregates in phosphoglycerate mutase deficiency.

We report two patients in whom phosphoglycerate mutase (PGAM) deficiency was associated with the triad of exercise-induced cramps, recurrent myoglobinuria, and tubular aggregates in the muscle biopsy. Serum creatine kinase (CK) levels were elevated between attacks of myoglobinuria. Forearm ischemic exercise tests produced subnormal increases of venous lactate. Muscle biopsies showed subsarcolemmal tubular aggregates in type 2 fibers. Muscle PGAM activities were markedly decreased (3% of the normal mean) and molecular genetic studies showed that both patients were homozygous for a described missense mutation (W78X). A review of 15 cases with tubular aggregates in the muscle biopsies from our laboratory and 15 cases with PGAM deficiency described in the literature showed that this clinicopathological triad is highly suggestive of PGAM deficiency.

Adolescent↗
PubMed1991

Myoglobinuria and carnitine palmityl transferase deficiency in father and son.

A 18-year-old man had recurrent myoglobinuria following exercise and fasting. His parents originated from the same village, which has less than 1000 inhabitants. His 53-year-old father suffered from similar episodes, whereas his mother and elder brother were symptom free. Biochemical investigations on muscle and platelets disclosed carnitine palmityl transferase (CPT) deficiency in the patient and his father. His mother and brother showed intermediate CPT values consistent with their being heterozygotes. This appears to be the first report of CPT deficiency with recurrent myoglobinuria in two generations (so-called quasidominant transmission).

Adolescent↗
PubMed2003

[Rhabdomyolysis and myoglobinuria].

Rhabdomyolysis is a disorder characterized by acute damage of the sarcolemma of the skeletal muscle leading to release of potentially toxic muscle cell components into the circulation, most notably creatine phosphokinase (CK) and myoglobin, and is frequently accompanied by myoglobinuria. Therefore, the term myoglobinuria is often used interchangeably with the term rhabdomyolysis. This disorder may result in potential life-threatening complications such as acute myoglobinuric renal failure, hyperkalemia and cardiac arrest, disseminated intravascular coagulation, and compartment syndrome. The condition is etiologically heterogeneous and may result from a large variety of diseases affecting muscle membranes, membrane ion channels, and muscle energy supply including acquired causes (e.g., exertion, crush injury and trauma, alcoholism, drugs, and toxins) and hereditary causes (e.g., disorders of carbohydrate metabolism, disorders of lipid metabolism, or diseases of the muscle associated with malignant hyperthermia). In many patients with idiopathic recurrent rhabdomyolysis, specific inherited metabolic defects have not been recognized up to now.

AMP Deaminase↗
PubMed1996

Recurrent myoglobinuria due to carnitine palmitoyltransferase II deficiency: expression of the molecular phenotype in cultured muscle cells.

Carnitine palmitoyltransferase II deficiency (CPT II) is an autosomal recessive disorder and the most frequent cause of hereditary myoglobinuria. We report the case of a young man who presented a severe fever-induced episode of rhabdomyolysis and myoglobinuria resulting in acute renal failure. Cultured skeletal muscle cells have been used for the biochemical and molecular characterization of the defect in this patient. Immunoblot analysis revealed reduced steady-state level of CPT II protein. A PCR-based method detected the common Ser113Leu substitution only in one allele, suggesting that the patient is a compound heterozygote for this common mutation and a different as yet unidentified mutation.

Adult↗
PubMed1978

Influence of pH on the simple solubility test for myoglobinuria.

We have investigated the effect of urine pH on the simple solubility test for myoglobinuria and found that the sensitivity of the test is very pH dependent. As much as a 10 fold increase in sensitivity can be obtained if the test is performed at pH 7.5 instead of pH 5.5. As such, we recommend that the urine pH should first be adjusted within the range 7.5--8.0 before performing the solubility test for myoglobinuria.

Humans↗
PubMed1994

Myophosphorylase deficiency: an unusually severe form with myoglobinuria.

Myophosphorylase deficiency (McArdle disease) is characterized by exercise intolerance that usually starts in childhood. Severe cramps and myoglobinuria are rarely problems in children. We describe an 8-year-old boy with exercise-induced myoglobinuria; he was homozygous for the mutation most commonly encountered in patients with typical McArdle disease.

Child↗
PubMed1986

Myoglobinuria in chronic renal failure.

Serum and urine myoglobin levels were determined on 14 patients with stable chronic renal failure. Serum myoglobin ranged from 38 to 350 ng/mL. Eleven patients had myoglobinuria between 15 and 250 ng/mL; none developed myoglobinuric renal failure. Fractional excretion of myoglobin in the myoglobinuric patients increased as creatinine clearance decreased, although there was no correlation between filtered load and excretion rate of myoglobin. This confirms that renal failure leads to hypermyoglobinemia and usually to myoglobinuria. Surviving nephrons tend to reabsorb less of the filtered load of myoglobin as renal function diminishes.

Glomerular Filtration Rate↗
PubMed2001

Primary beta-sarcoglycanopathy manifesting as recurrent exercise-induced myoglobinuria.

We report an unusual presentation of a primary beta-sarcoglycanopathy (LGMD type 2E). A 12- year-old boy came to our attention after six episodes of exercise-induced myoglobinuria. Electromyogram showed mild myopathic features of the proximal lower limb muscles. Electrocardiogram was normal. Neurological examination revealed normal muscle strength and reduced deep tendon reflexes. A muscle biopsy showed rare regenerating fibers; the immunohistochemistry was normal for dystrophin, while all the sarcoglycans were diffusely decreased. Western blot analysis showed a relevant decrease of all sarcoglycan proteins and a mild dystrophin reduction. beta-Sarcoglycan gene analysis demonstrated a compound heterozygous status for these mutations: a novel A-T base pair substitution at nucleotide 85 in exon 2, changing the codon Arg to a stop codon; a C-T base pair substitution at nucleotide 272 in exon 3 changing a Arg to a Cys residue. We consider that exercise-induced myoglobinuria may be the presenting sign of primary beta-sarcoglycanopathy.

Base Sequence↗
PubMed2002

Alpha-sarcoglycan deficiency featuring exercise intolerance and myoglobinuria.

An 8-year-old boy was referred for recent onset of easy fatigue. He showed hyperCKemia and mild scapular winging. Muscle biopsy on the quadriceps muscle demonstrated slight fibre size variability. Dystrophin was normally distributed, carnitine palmitoyl transferase and glycolytic enzymes had normal activities. In the following years the patient developed exercise intolerance and myoglobinuria. Immunohistochemistry showed marked reduction of alpha-sarcoglycan, confirmed by Western blotting. Molecular analysis revealed compound heterozygosity with Arg284Cys and Glu137Lys substitutions, corresponding to nucleotide changes C850 T and G409 A in the gene. At present the patient, 20 years old, shows mild proximal weakness with prominent involvement of the paraspinal muscles, dorsal kyphosis and lumbar hyperlordosis. Exercise intolerance and myoglobinuria, already described in Becker muscular dystrophy, should be also considered among the possible presentations of sarcoglycan deficiencies.

Biopsy↗
PubMed1975

A disorder of muscle lipid metabolism and myoglobinuria. Absence of carnitine palmityl transferase.

Two brothers, 29 and 33 years of age, had recurrent myoglobinuria, renal failure and azotemia, but were otherwise normal, without apparent muscle weakness or exercise intolerance. Ischemic exercise resulted in normal lactate production. Muscle glycogen content and activities of phosphorylase and phosphofructokinase were normal. Plasma triglycerides were elevated (500 mg per deciliter) on a regular diet and rose during fasting. During a 72-hour fast, serum creatine phosphokinase rose more than 10 times, and myoglobin was detected in urine. Plasma ketone production was minimal during fasting, but prompt ketonemia ( a normal response) occurred after ingestion of medium-chain triglycerides. Carnitine palmityl transferase activity was virtually absent in crude muscle extracts and mitochondrial fractions. Lack of this enzyme impairs long-chain fatty acid utilization, reflected in increased content of plasma free fatty acids and plasma triglycerides. Depletion of ATP because of this metabolic block in muscle may account for the attacks of myoglobinuria.

Acute Kidney Injury↗
PubMed1988

Atypical myoglobinuria: an acute myopathy in grazing horses.

Four out of 12 horses grazing a field in Berkshire, England, suffered a prostrating illness and died within 12 to 72 h. Serum biochemical abnormalities, including markedly elevated muscle enzymes, were demonstrated and at post mortem widespread myodegeneration was found in both skeletal muscle and myocardium. Urine analysis revealed myoglobinuria, and renal changes were seen histologically. Although similar pathologically, the clinical syndrome and circumstances of the outbreak were not typical of equine exertional rhabdomyolysis (EER). The outbreak bore a striking resemblance to other reported sporadic outbreaks of an atypical myoglobinuria occurring in grazing horses. A number of potential aetiological and contributory factors (including herbicide toxicity) were considered, but the aetiology remains unresolved.

Animals↗
PubMed1973

Muscle carnitine palmityltransferase deficiency and myoglobinuria.

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. Long-chain fatty acyl CoA synthetase activity was normal; acetylcarnitine transferase activity was decreased by 40 percent, and carnitine content was 1.7 times higher than the mean control value. Utilization of palmitate by isolated mitochondria was more impaired than utilization of palmitylcarnitine, suggesting a more severe defect of carnitine palmityltransferase I than transferase II. Thus, myoglobinuria may be due to a genetic defect of lipid metabolism in skeletal muscle.

Acetyltransferases↗
PubMed1996

Haemorrhagic shock encephalopathy syndrome presenting with myoglobinuria.

An infant with haemorrhagic shock encephalopathy syndrome (HSES) who in addition presented with hyperpyrexia and myoglobinuria is reported. As rhabdomyolysis is a feature of heat stroke and malignant hyperthermia, the association of HSES with myoglobinuria supports the hypothesis that HSES may be a form of hypermetabolic state triggered by hyperthermia.

Brain Diseases↗
PubMed1989

Posttransfusion hemoglobinuria and myoglobinuria in neonates.

Posttransfusion positive dipsticks for occult blood do not differentiate hemoglobinuria from myoglobinuria, relatively common events in infants admitted to the neonatal intensive care unit. We studied posttransfusion plasma and urine hemoglobin and myoglobin in relation to occult blood positivity in the urine dipsticks, in 48 consecutive transfusions with packed RBC (28 neonates, birth weight 850-3,700 g, postnatal age 3-167 days). Urine dipsticks show a low sensitivity for detecting hemoglobin and also undervalue myoglobin, both possible in different amounts in the plasma and urine of ill neonates. However, posttransfusion occult blood positive urine dipsticks due to myoglobinuria are present in 10% of transfused neonates.

Blood Transfusion↗
PubMed1989

Idiopathic myoglobinuria in the early puerperium.

Myoglobinuria is rare in association with pregnancy. We report a case of idiopathic myoglobinuria in the early puerperium in a patient who had a spontaneous vaginal delivery. Acute muscular pain and port wine staining of the urine should alert the clinician.

Adult↗
PubMed1980

Carnitine palmityl transferase deficiency: myoglobinuria and respiratory failure.

A 51-year-old man presented with acute respiratory failure and myoglobinuria precipitated by an infection. Carnitine palmityltransferase (CPT) deficiency was documented in muscle, leukocytes, and liver. The enzyme defect in liver, previously suspected and now documented, explained the decreased production of ketone bodies during fasting observed in this patient as well as others with muscle CPT deficiency. Decreased utilization of long-chain fatty acids and decreased availability of ketone bodies can deprive the muscle of crucial sources of energy and, in certain conditions, may precipitate myoglobinuria.

Acyltransferases↗