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Myopathy due to malate-aspartate shuttle defect

MedGen UID:
342579
Concept ID:
C1850744
Disease or Syndrome
Synonyms: Myopathy due to Malate-Aspartate Shuttle Defect
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). [HPO:curators]
Autosomal recessive inheritance (HPO, OMIM, Orphanet)
 
OMIM®: 254960

Clinical features

Exercise-induced myalgia
MedGen UID:
340638
Concept ID:
C1850830
Sign or Symptom
The occurrence of an unusually high amount of muscle pain following exercise.
Red urine
MedGen UID:
910906
Concept ID:
C0858862
Finding
An abnormal red color of the urine.
Muscular Diseases
MedGen UID:
10135
Concept ID:
C0026848
Disease or Syndrome
A disorder of muscle unrelated to impairment of innervation or neuromuscular junction.
Elevated serum creatine phosphokinase
MedGen UID:
69128
Concept ID:
C0241005
Finding
An elevation of the level of the enzyme creatine kinase (also known as creatine phosphokinase, CPK; EC 2.7.3.2) in the blood. CPK levels can be elevated in a number of clinical disorders such as myocardial infarction, rhabdomyolysis, and muscular dystrophy.
Red urine
MedGen UID:
910906
Concept ID:
C0858862
Finding
An abnormal red color of the urine.

Recent clinical studies

Therapy

Majamaa K, Rusanen H, Remes A, Hassinen IE
Mol Cell Biochem 1997 Sep;174(1-2):291-6. PMID: 9309702

Prognosis

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. PMID: 3440868

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