Recurrent myoglobinuria is characterized by recurrent attacks of rhabdomyolysis associated with muscle pain and weakness and followed by excretion of myoglobin in the urine. Renal failure may occasionally occur. Onset is usually in early childhood under the age ... Recurrent myoglobinuria is characterized by recurrent attacks of rhabdomyolysis associated with muscle pain and weakness and followed by excretion of myoglobin in the urine. Renal failure may occasionally occur. Onset is usually in early childhood under the age of 5 years. Unlike the exercise-induced rhabdomyolyses such as McArdle syndrome (232600), carnitine palmitoyltransferase deficiency (255110; 255120), and the Creteil variety of phosphoglycerate kinase deficiency (311800), the attacks in recurrent myoglobinuria no relation to exercise, but are triggered by intercurrent illnesses, commonly upper respiratory tract infections. (Ramesh and Gardner-Medwin, 1992). Severe rhabdomyolysis is a major clinical feature of anesthetic-induced malignant hyperthermia (145600), an autosomal dominant disorder.
Christensen et al. (1983) studied the disorder in 3 brothers. Muscle carnitine palmitoyltransferase was normal. During exercise, serum creatine kinase rose markedly from only slightly elevated levels at rest. Precipitation of attacks seemed to be related to complete ... Christensen et al. (1983) studied the disorder in 3 brothers. Muscle carnitine palmitoyltransferase was normal. During exercise, serum creatine kinase rose markedly from only slightly elevated levels at rest. Precipitation of attacks seemed to be related to complete muscle glycogen depletion, indicating defective muscle lipid metabolism. Ramesh and Gardner-Medwin (1992) described 2 families with familial paroxysmal rhabdomyolysis unrelated to exercise. In 1 family, a 3-month-old girl had a single attack of rhabdomyolysis. Her older brother died suddenly at the age of 4 years following a day-long illness. The parents were not consanguineous. The second family had 4 affected girls who were born of a Kuwaiti, Bedouin, first-cousin couple. The 2 oldest sisters died at the age of about 5 years with acute generalized muscle weakness and myoglobinuria. Zeharia et al. (2008) 3 patients of Arab Muslim origin who developed recurrent episodes of myoglobinuria beginning at ages 2, 2, and 7 years, respectively. All were born at term and had normal birth and early psychomotor development. The episodes were invariably precipitated by febrile illnesses and lasted 7 to 10 days. Clinical features included generalized weakness, inability to walk, myalgia, and dark urine. Physical examination revealed marked sensitivity over the thighs and calf muscles without swelling, localized warmth, or redness. Muscle strength was markedly reduced, and the patellar and Achilles reflexes could not be elicited bilaterally. All patients had normal health between episodes.
In affected members of an Arab Muslim family with recurrent myoglobinuria, Zeharia et al. (2008) identified a homozygous mutation in the LPIN1 gene (605518.0001). Five additional LPIN1 mutations (see, e.g., 605518.0002-605518.0005) were identified in 4 of 22 additional ... In affected members of an Arab Muslim family with recurrent myoglobinuria, Zeharia et al. (2008) identified a homozygous mutation in the LPIN1 gene (605518.0001). Five additional LPIN1 mutations (see, e.g., 605518.0002-605518.0005) were identified in 4 of 22 additional patients with recurrent rhabdomyolysis and myoglobinuria. The clinical course of these patients was essentially similar with normal early development and episodes of myoglobinuria precipitated by catabolic stress. All affected individuals developed normally between episodes. Zeharia et al. (2008) postulated that a defect in phosphatidic acid phosphatase may result in accumulation of lysophosphatidate and other lysophospholipids in muscle tissue, which may result in rhabdomyolysis during stress.