Serum carnitine levels in patients with homozygous beta thalassemia: A possible new role for carnitine?

European Journal of Pediatrics

Volumn 164, Issue 3, 2005, Pages 131-134

  Tsagris, Vasileios ^a,c   Liapi Adamidou, Georgia ^b  

^a NATIONAL AND KAPODISTRIAN UNIVERSITY OF ATHENS   (Greece)

^b UNIVERSITY OF ATHENS   (Greece)

^c NONE   (Greece)

Author keywords

Carnitine deficiency; Children; Muscular; Thalassemia

Indexed keywords

CARNITINE;

ADOLESCENT; ADULT; ARTICLE; BETA THALASSEMIA; BIOSYNTHESIS; BLOOD LEVEL; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; FATTY ACID OXIDATION; FEMALE; HOMOZYGOSITY; HOMOZYGOTE; HUMAN; LIVER; MALE; MEASUREMENT; MITOCHONDRION; PATIENT; PRIORITY JOURNAL;

ADOLESCENT; ADULT; BETA-THALASSEMIA; CARNITINE; CASE-CONTROL STUDIES; CHILD; CHILD, PRESCHOOL; FATTY ACIDS; FEMALE; HOMOZYGOTE; HUMANS; MALE; MUSCLE WEAKNESS; QUESTIONNAIRES;

EID: 17644398472     PISSN: 03406199     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00431-004-1590-y     Document Type: Article

References (22)

1. Cederblad G, Lindstedt S (1972) A method for the determination of carnitine in the picomole range. Clin Chim Acta 37: 235-243
2. Colin AA, Jaffe M, Shapira Y, Neeman Z, Gutman A, Korman S (1987) Muscle carnitine deficiency presenting as familial fatal cardiomyopathy. Arch Dis Child 62: 1170-1172
3. El-Beshlawy A, Ragab L, Fattah AA, Ibrahim IY, Hamdy M, Makhlouf A, Aoun E, Hoffbrand V, Taher A (2004) Improvement of cardiac function in thalassemia major treated with L-carnitine. Acta Haematol 111: 143-148
4. Engel AG, Angelini C (1973) Carnitine deficiency of human skeletal muscles with associated lipid storage myopathy: a new syndrome. Science 179: 899-902
5. Ferrari R, Cargoni A, de Giuli F, Pasini E, Anand I, Visioli O (1993) Propionyl-L-carnitine improves skeletal muscle metabolism and exercise capacity of patients with congestive heart failure. Circulation 88: 1414
6. Hayes AN, Poznanski WJ (1970) Fluoride-oxalate plasma for colorimetric free fatty acid measurement. Clin Biochem 3: 315-317
7. Karpati G, Carpenter S, Engel AG, Watters G, Allen J, Rothman S, Klassen G, Mammer OA (1975) The syndrome of systemic carnitine deficiency: clinical, morphologic, biochemical and pathophysiologic features. Neurology 25: 16-24
8. Lindinger A, Graf N, Hoffmann W (1998) Cardiac dysfunction in children with thalassemia major. Klin Padiatr 200: 102-107
9. Maier Y, Georg T, Sitzmann FC (2002) Reference values of the free carnitine level in children's plasma and from cord blood of newborns. Pediatr Related Topics 41: 1-10
10. Marquis NR, Fritz IB (1964) Enzymological determination of free carnitine concentrations in rat tissues. J Lipid Res 5: 184-187
11. Mollica F, Romeo MA, di Gregorio F, Grasso A, Pavone L (1980) Neurological and muscular manifestations of thalassemia major. Arch Fr Pediatr 37: 173-175
12. Palmieri L, Ronca F, Malengo S, Bertelli A (1994) Protection of beta-thalassemic erythrocytes from oxidative stress by propionyl carnitine. Int J Tissue React 16: 121-129
13. Perrine SP, Ginder GD, Faller DV, Dover GH, Ikuta T, Witkowska E, Cai S, Vichinsky EP, Oliveri NF (1993) A short-term trial of butyrate to stimulate fetal globin gene expression in the beta globin disorders. N Eng J Med 328: 81-85
14. Prockop LD, King Engel W, Shug AL (1983) Nearly fatal muscle carnitine deficiency with full recovery after replacement therapy. Neurology 33: 1629-1631
15. Rudman D, Sewell C, Ansley J (1977) Deficiency of carnitine in cachectic cirrhotic patients. J Clin Invest 60: 716
16. Schmidt-Sommerfeld E, Werner D, Penn D (1988) Carnitine plasma concentrations in 353 metabolically healthy children. Eur J Pediatr 147: 356-360
17. Sieverding L, Schmaltz AA, Hassberg D, Apitz J, Hort W (1989) Secondary diseases of the heart muscle and their differential diagnosis in childhood. Wien Klin Wochenschr 101: 39-44
18. Stella M, Pinzello G, Maggio A (1998) Iron chelation with oral deferiprone in patients with thalassemia (letter). N Engl J Med 339: 1712
19. Tein I, de Vivo DC, Bierman F, Pulver P, de Meirleir LJ, Cvitanovic-Sojat L, Pagon RA, Bertini E, Dionisi-Vici C, Servidei S (1990) Impaired skin fibroblast carnitine uptake in primary systemic carnitine deficiency manifested by childhood carnitine responsive cardiomyopathy. Pediatr Res 28: 247-255
20. Thakerngpol K, Fucharoen S, Sumiyoshi A, Stitnimankarn T (1992) Liver tissue injury secondary to iron overload in betathalassemia/hemoglobin E disease. Southeast Asian J Trop Med Public Health 23[Suppl 2]: 110-115
21. Walter JH (1996) L-carnitine. Arch Dis Child 74: 475-478
22. Yesilipek MA, Hazar V, Yegin O (1998) L-carnitine treatment in beta thassemia major. Acta Haematol 100: 162-163