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Abnormal esterified to free carnitine ratio

MedGen UID:
1787514
•Concept ID:
C5539650
•
Finding
HPO: HP:0033502

Definition

Any deviation from the normal ratio of acylcarnitine (i.e., esterified carnitine) to free carnitine. [from HPO]

Recent clinical studies

Etiology

Iron chelation therapy in Upper Egyptian transfusion-dependent pediatric homozygous beta-thalassemia major: impact on serum L-carnitine/free fatty acids, osteoprotegerin/the soluble receptor activator of nuclear factor-kappabeta ligand systems, and bone mineral density.
Hamed EA, Mohamed NA, El-Metwally TH, Kamal MM
J Pediatr Hematol Oncol 2010 May;32(4):267-73. doi: 10.1097/MPH.0b013e3181d419d6. PMID: 20445416
Fatty acid oxidation abnormalities in childhood-onset spinal muscular atrophy: primary or secondary defect(s)?
Tein I, Sloane AE, Donner EJ, Lehotay DC, Millington DS, Kelley RI
Pediatr Neurol 1995 Jan;12(1):21-30. doi: 10.1016/0887-8994(94)00100-g. PMID: 7748356

Diagnosis

Markers of cellular dysoxia during orthotopic liver transplantation in pigs.
de Jaeger A, Proulx F, Yandza T, Dugas MA, Boeuf B, Manika A, Lacroix J, Lambert M
Intensive Care Med 1998 Mar;24(3):268-75. doi: 10.1007/s001340050564. PMID: 9565813

Therapy

Iron chelation therapy in Upper Egyptian transfusion-dependent pediatric homozygous beta-thalassemia major: impact on serum L-carnitine/free fatty acids, osteoprotegerin/the soluble receptor activator of nuclear factor-kappabeta ligand systems, and bone mineral density.
Hamed EA, Mohamed NA, El-Metwally TH, Kamal MM
J Pediatr Hematol Oncol 2010 May;32(4):267-73. doi: 10.1097/MPH.0b013e3181d419d6. PMID: 20445416
Carnitine replacement in end-stage renal disease and hemodialysis.
Calvani M, Benatti P, Mancinelli A, D'Iddio S, Giordano V, Koverech A, Amato A, Brass EP
Ann N Y Acad Sci 2004 Nov;1033:52-66. doi: 10.1196/annals.1320.005. PMID: 15591003
Markers of cellular dysoxia during orthotopic liver transplantation in pigs.
de Jaeger A, Proulx F, Yandza T, Dugas MA, Boeuf B, Manika A, Lacroix J, Lambert M
Intensive Care Med 1998 Mar;24(3):268-75. doi: 10.1007/s001340050564. PMID: 9565813

Clinical prediction guides

Markers of tissue hypoperfusion in pediatric septic shock.
Dugas MA, Proulx F, de Jaeger A, Lacroix J, Lambert M
Intensive Care Med 2000 Jan;26(1):75-83. doi: 10.1007/s001340050015. PMID: 10663284Free PMC Article

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