The reference OMIM entry for this protein is 268200

Myoglobinuria, acute recurrent, autosomal recessive
Myoglobinuria, familial paroxysmal paralytic
Rhabdomyolysis, acute recurrent

A number sign (#) is used with this entry because autosomal recessive recurrent acute myoglobinuria can be caused by mutation in the LPIN1 gene (605518). See also possible autosomal dominant inheritance (160010).

DESCRIPTION

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.

CLINICAL FEATURES

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.

INHERITANCE

Hed (1953) observed 3 affected brothers with myoglobinuria. Three other brothers and the parents were unaffected, suggesting autosomal recessive inheritance. Bowden et al. (1956) reported an affected brother and sister.

CLINICAL MANAGEMENT

As preventive measures, Ramesh and Gardner-Medwin (1992) urged the avoidance of fasting, the prompt treatment of febrile illnesses with cooling measures and specific antibiotics where appropriate, and the consumption of high-energy drinks. Although excessive or very prolonged exertion should probably be avoided, normal childhood activities and a normal amount of exercise have not been shown to be harmful. Standard precautions against malignant hyperpyrexia should be taken in the event of anesthesia. Intravenous dextrose infusions are indicated before, during, and after surgery. Th ... More on the omim web site

Subscribe to this protein entry history

Oct. 20, 2020: Protein entry updated
Automatic update: Entry updated from uniprot information.

Oct. 20, 2018: Protein entry updated
Automatic update: OMIM entry 268200 was added.

Oct. 19, 2018: Additional information
Initial protein addition to the database. This entry was referenced in Bryk and co-workers. (2017).