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Myopathy due to malate-aspartate shuttle defect

MedGen UID:
342579
•Concept ID:
C1850744
•
Disease or Syndrome
Synonym: Myopathy due to Malate-Aspartate Shuttle Defect
 
Monarch Initiative: MONDO:0009702
OMIM®: 254960

Recent clinical studies

Therapy

Metabolic interventions against complex I deficiency in MELAS syndrome.
Majamaa K, Rusanen H, Remes A, Hassinen IE
Mol Cell Biochem 1997 Sep;174(1-2):291-6. PMID: 9309702

Prognosis

An unusual metabolic myopathy: a malate-aspartate shuttle defect.
Hayes DJ, Taylor DJ, Bore PJ, Hilton-Jones D, Arnold DL, Squier MV, Gent AE, Radda GK
J Neurol Sci 1987 Dec;82(1-3):27-39. doi: 10.1016/0022-510x(87)90004-9. PMID: 3440868

Clinical prediction guides

Mitochondria and diabetes. Genetic, biochemical, and clinical implications of the cellular energy circuit.
Gerbitz KD, Gempel K, Brdiczka D
Diabetes 1996 Feb;45(2):113-26. doi: 10.2337/diab.45.2.113. PMID: 8549853

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