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myoglobinuria/triglyceride

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

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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

[Lipid metabolism disorder in skeletal musculature (carnitine palmitoyltransferase deficiency) and paroxysmal myoglobinuria].

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For the first time in Soviet medical literature a patient with an insufficiency of carnitine palmityl transferase (CPT) in skeletal muscles is described. The disease manifested itself in repeated attacks of severe muscular pains and myoglobinuria developing after long-time muscular efforts. The

Mutations in LPIN1 cause recurrent acute myoglobinuria in childhood.

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Recurrent episodes of life-threatening myoglobinuria in childhood are caused by inborn errors of glycogenolysis, mitochondrial fatty acid beta-oxidation, and oxidative phosphorylation. Nonetheless, approximately half of the patients do not suffer from a defect in any of these pathways. Using

To absorb fat - supersize my lipid droplets.

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Lipins play important roles in adipogenesis, insulin sensitivity, and gene regulation, and mutations in these genes cause lipodystrophy, myoglobinuria, and inflammatory disorders. While all lipins (lipin 1, 2, and 3) act as phosphatidic acid phosphatase (PAP) enzymes, which are required for

Dietary management of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD). A case report and survey.

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Current dietary management of long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD; long-chain-(S)-3-hydroxyacyl-CoA:NAD+ oxido-reductase, EC 1.1.1.211) deficiency (LCHADD) is based on avoiding fasting, and minimizing energy production from long-chain fatty acids. We report the effects of various

Combined HIIT and Resistance Training in Very Long-Chain Acyl-CoA Dehydrogenase Deficiency: A Case Report.

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Very long-chain acyl-CoA dehydrogenase deficiency (VLCADD) is a rare disorder of mitochondrial fatty acid β-oxidation characterized by a spectrum of clinical manifestations. Patients with the adult-onset form can present with muscle pain, rhabdomyolysis and myoglobinuria after physiological stress,

Familial combined deficiency of muscle carnitine and carnitine palmityl transferase (CPT).

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Two patients, brother and sister, aged 19 and 16, with combined, partial deficiency of carnitine palmityltransferase (CPT) are reported. Both patients had recurrent exercise-related myoglobinuria. The brother had also experienced an episode of transient renal failure associated with myoglobinuria.

Rationale and management of hyperlipidemia of the nephrotic syndrome.

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Hyperlipidemia is usually present in patients with the nephrotic syndrome. The most common lipid abnormality is hypercholesterolemia, although as the disorder progresses, hypertriglyceridemia may develop. Elevated plasma lipids have two potential vascular consequences, namely, atherosclerosis and

Heterogeneity of carnitine-palmitoyltransferase deficiency.

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Episodes with muscle ache, rhabdomyolysis and myoglobinuria with or without associated renal insufficiency are characteristic of muscle carnitinepalmitoyltransferase (CPT) deficiency. However, patients differ from each other in many aspects, such as the kind of stimulus that triggers rhabdomyolysis,

Recognition and management of fatty acid oxidation defects: a series of 107 patients.

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In a personal series of 107 patients, we describe clinical presentations, methods of recognition and therapeutic management of inherited fatty acid oxidation (FAO) defects. As a whole, FAO disorders appear very severe: among the 107 patients, only 57 are still living. Including 47 siblings who died

Gemfibrozil-lovastatin therapy for primary hyperlipoproteinemias.

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The specific aim of this retrospective, observational study was to assess safety and efficacy of long-term (21 months/patient), open-label, gemfibrozil-lovastatin treatment in 80 patients with primary mixed hyperlipidemia (68% of whom had atherosclerotic vascular disease). Because ideal lipid

Biochemical and physiologic consequences of carnitine palmityltransferase deficiency.

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A patient with a long history of exercise-unduced pain developed myoglobinuria and respiratory failure following extensive exercise (football). Although muscle histochemistry was normal, tissue oxidation of 14C-labeled palmitate was decreased, and muscle carnitine palmityltransferase (CPT) activity

Disorders of mitochondrial long-chain fatty acid oxidation.

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The oxidation of long-chain fatty acids requires a series of enzymes which are located in or on the mitochondrial membranes. These include carnitine palmitoyltransferases I and II, a carnitine-acylcarnitine translocase and, newly discovered, very long-chain acyl-CoA dehydrogenase and the

Disorders of lipid metabolism in muscle.

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At rest and during sustained exercise, lipids are the main source of energy for muscle. Free fatty acids become available to muscle from plasma free fatty acids and triglycerides, and from intracellular triglycride lipid droplets. Transport of long-chain fatty acyl groups into the mitochondria
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