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Carnitine deficiency, myopathic

MedGen UID:
347852
•Concept ID:
C1859318
•
Disease or Syndrome
Synonyms: Carnitine Deficiency, Myopathic; Myopathic carnitine deficiency
 
Monarch Initiative: MONDO:0008920
OMIM®: 212160

Clinical features

From HPO
Myopathy
MedGen UID:
10135
•Concept ID:
C0026848
•
Disease or Syndrome
A disorder of muscle unrelated to impairment of innervation or neuromuscular junction.
See: Feature record | Search on this feature
Decreased circulating carnitine concentration
MedGen UID:
222973
•Concept ID:
C1142132
•
Finding
Concentration of carnitine in the blood circulation below the lower limit of normal.
See: Feature record | Search on this feature
Reduced muscle carnitine level
MedGen UID:
892651
•Concept ID:
C4072902
•
Finding
A reduction in the level of carnitine in muscle tissue.
See: Feature record | Search on this feature
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Professional guidelines

PubMed

Genetic disorders of carnitine metabolism and their nutritional management.
Kerner J, Hoppel C
Annu Rev Nutr 1998;18:179-206. doi: 10.1146/annurev.nutr.18.1.179. PMID: 9706223
Infantile idiopathic myopathic carnitine deficiency: treatment with L-carnitine.
Shapira Y, Glick B, Harel S, Vattin JJ, Gutman A
Pediatr Neurol 1993 Jan-Feb;9(1):35-8. doi: 10.1016/0887-8994(93)90007-y. PMID: 8452598

Recent clinical studies

Therapy

Genetic disorders of carnitine metabolism and their nutritional management.
Kerner J, Hoppel C
Annu Rev Nutr 1998;18:179-206. doi: 10.1146/annurev.nutr.18.1.179. PMID: 9706223

Supplemental Content

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