myopathy with lactic acidosis—hereditary

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myopathy with lactic acidosis—hereditary2016-11-27T12:57:08+00:00

myopathy with lactic acidosis—hereditary

METABOLISM

Definition An autosomal recessive metabolic disease (OMIM:255125) characterised by lifelong severe exercise intolerance, in which minor exertion causes fatigue of active muscles, shortness of breath, palpitations and lactic acidosis.

Pathogenesis Lack of mitochondrial iron-sulphur proteins and impaired muscle oxidative metabolism. 

Molecular pathology Defects of ISCU, which encodes an enzyme involved in the assembly or repair of the iron-sulphur clusters in iron-sulphur proteins, cause myopathy with lactic acidosis—hereditary. 

Synonyms Myogloblinuria due to abnormal glycolysis, myopathy with deficiency of succinate dehydrogenase and aconitase, myopathy with exercise intolerance—Swedish type 

References http://www.uniprot.org/uniprot/Q9H1K1

http://www.omim.org/entry/255125

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