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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
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
Decreased circulating carnitine concentration
MedGen UID:
1850526
•Concept ID:
C5848230
•
Finding
Concentration of carnitine in the blood circulation below the lower limit of normal.
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

Etiology

Cardiac function and incidence of unexplained myocardial scarring in patients with primary carnitine deficiency - a cardiac magnetic resonance study.
Kyhl K, Róin T, Lund A, Vejlstrup N, Madsen PL, Engstrøm T, Rasmussen J
Sci Rep 2019 Sep 26;9(1):13909. doi: 10.1038/s41598-019-50458-9. PMID: 31558765Free PMC Article
Carnitine metabolism and human carnitine deficiency.
Tanphaichitr V, Leelahagul P
Nutrition 1993 May-Jun;9(3):246-54. PMID: 8353366

Diagnosis

Primary carnitine deficiency in a male adult.
Karmaniolas K, Ioannidis P, Liatis S, Dalamanga M, Papalambros T, Migdalis I
J Med 2002;33(1-4):105-10. PMID: 12939109
Carnitine metabolism and human carnitine deficiency.
Tanphaichitr V, Leelahagul P
Nutrition 1993 May-Jun;9(3):246-54. PMID: 8353366
Intracellular free [Ca2+] in human skeletal muscle with myopathic carnitine deficiency.
López JR, Briceño LE, Cordovez G, Sánchez V, Linares N
Gen Physiol Biophys 1989 Apr;8(2):91-8. PMID: 2777061
Carnitine metabolism and deficiency syndromes.
Rebouche CJ, Engel AG
Mayo Clin Proc 1983 Aug;58(8):533-40. PMID: 6348429

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
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
Intracellular free [Ca2+] in human skeletal muscle with myopathic carnitine deficiency.
López JR, Briceño LE, Cordovez G, Sánchez V, Linares N
Gen Physiol Biophys 1989 Apr;8(2):91-8. PMID: 2777061
Carnitine metabolism and deficiency syndromes.
Rebouche CJ, Engel AG
Mayo Clin Proc 1983 Aug;58(8):533-40. PMID: 6348429
Treatment of myopathic carnitine deficiency: quantitation of response to prednisone and carnitine.
Griggs RC, Pandya S, Moxley RT, Forbes G, VanDyke DH, Pearce FJ
Trans Am Neurol Assoc 1981;106:199-202. PMID: 7348994

Clinical prediction guides

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

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