Deficient muscle carnitine transport in primary carnitine deficiency

Pediatric Research

Volumn 42, Issue 5, 1997, Pages 583-587

  Pons, Roser ^a   Carrozzo, Rosalba ^a   Tein, Ingrid ^c   Walker, Winsome F ^a   Addonizio, Linda J ^d   Rhead, William ^e   Miranda, Armand F ^b   Dimauro, Salvatore ^a   De Vivo, Darryl C ^a,f  

^a Och Spine at New York Presbyterian Hospitals   (United States)

^b Hospital for Sick Children ^*  (United States)

^c HOSPITAL FOR SICK CHILDREN RESEARCH INSTITUTE   (Canada)

^d New York Presbyterian Hospital Columbia University Medical Center   (United States)

^e UNIVERSITY OF IOWA   (United States)

^f NEUROLOGICAL INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CARNITINE;

AMINO ACID BLOOD LEVEL; AMINO ACID TRANSPORT; ARTICLE; CARDIOMYOPATHY; CARNITINE DEFICIENCY; CASE REPORT; CHILD; CONTROLLED STUDY; FEMALE; FIBROBLAST CULTURE; HETEROZYGOSITY; HUMAN; HUMAN CELL; MUSCLE WEAKNESS; PRIORITY JOURNAL;

EID: 0030772205     PISSN: 00313998     EISSN: None     Source Type: Journal    
DOI: 10.1203/00006450-199711000-00005     Document Type: Article

References (28)

1. Roe CR, Coates PM 1995 Mitochondrial fatty acid oxidation disorders. In: Scriver CR, Beaudet AL, Sly WS and Valle D (eds) The Metabolic and Molecular Basis of Inherited Diseases, Vol I, 7th Ed. McGraw-Hill, New York, pp 1501-1533
2. Treem WR, Stanley CA, Finegold DN, Hale DE, Coates PM 1988 Primary carnitine deficiency due to a failure of carnitine transport in kidney, muscle and fibroblasts. N Engl J Med 319:1331-1336
3. Stanley CA, DeLeeuw S, Coates PM, Vieney-Liaud C, Divry P, Bonnefont JP, Saudubray JM, Haymond M, Trefz FK, Breningstall GN, Wapper RS, Byrd DJ, Sansariq G, Tein I, Grover W, Valle D, Rutledge L, Treem WR 1991 Chronic cardiomyopathy and weakness or acute coma in children with a defect in carnitine uptake. Ann Neurol 30:709-716
4. Tein I, DeVivo DC, Bierman F, Pulver P, LJ DeMerleir, Cvitanovic-Sojat, Pagon RA, Bertini E, Dionisi-Vici, Servidei S, DiMauro 1990 Impaired skin fibroblasts carnitine uptake in primary systemic carnitine deficiency manifested by childhood carnitine-responsive cardiomyopathy. Pediatr Res 28:247-253
5. Waber LJ, Valle D, Neill C, DiMauro S, Shug A 1982 Carnitine deficiency presenting as familial cardiomyopathy: a treatable defect in carnitine transport. J Pediatr 101:700-705
6. Pons R, De Vivo DC 1995 Primary and secondary carnitine deficiency syndromes. J Child Neurol 10(supp):2S8-2S24
7. Miranda AF, Somer H, DiMauro S 1979 Isoenzymes as markers of differentiation. In: Mauro A (ed) Muscle Regeneration. Raven Press, New York, pp. 453-473
8. Miranda AF, Babiss LE, Fisher PB 1986 Measurement of the effect of interferons on cellular differentiation of human skeletal muscle cells. Methods Enzymol 119:619-628
9. ST Clair JA, Meyer-Demarest SD, Ham RG 1992 Improved medium with EGF and BSA for differentiated human skeletal muscle cells. Muscle Nerve 15:774-779
10. Lowry OH, Rosebrough NJ, Farr AL, Randall RJ 1951 Protein measurement with folin phenol reagent. J Biol Chem 193:265-275
11. Rhead W, Roettger V, Marshall T, Amendt B 1993 Multiple acyl-CoA coenzyme A dehydrogenation disorder responsive to riboflavin: substrate oxidation, flavin metabolism, and flavoenzyme activities in fibroblasts. Pediatr Res 33:129-135
12. Tein I, De Vivo DC, Ranucci D, DiMauro S 1993 Skin fibroblasts carnitine uptake in secondary carnitine deficiency disorders. J Inherited Metab Dis 16:135-146
13. Rebouche CJ, Engel AG 1980 In vitro analysis of hepatic carnitine biosynthesis in systemic carnitine deficiency syndromes. Clin Chim Acta 106:295-300
14. Engel AG, Rebouche CJ, Wilson DM, Glasgow AM, Romshe CA, Cruse RP 1985 Primary systemic carnitine deficiency. II. Renal handling of carnitine. Neurology 31:819-825
15. Rebouche CJ, Engel AG 1984 Kinetic compartmental analysis of carnitine deficiency syndromes. Evidence of alterations in the tissues carnitine transport. J Clin Invest 73:857-867
16. Bremer J 1983 Carnitine - metabolism and functions. Physiol Rev 63:1420-1480
17. Rebouche CJ, Engel AG 1982 Carnitine transport in cultured muscle cells and skin fibroblasts from patients with primary systemic camitine deficiency. In Vitro 18:495-500
18. Bohmer T, Eiklid K, Jonsen J 1977 Carnitine uptake into human heart cells in culture. Biochim Biophys Acta 465:627-633
19. Martinuzzi A, Vergani L, Rosa M, Angelini C 1991 L-Carnitine uptake in differentiating human cultured muscle. Biochim Biophys Acta 1095:217-222
20. Shaw RD, Li BUK, Hamilton JW, Shug AL, Olsen W 1983 Carnitine transport in rat small intestine. Am J Physiol 245:G376-G381
21. Huth PJ, Shug AL 1980 Properties of carnitine transport in rat kidney cortex slices. Biochim Biophys Acta 602:621-634
22. Rebouche CJ, Mack DL 1984 Sodium gradient-stimulated transport of l-carnitine into renal brush border membrane vesicles: kinetics, specificity, and regulation by dietary carnitine. Arch Biochem Biophys 235:393-402
23. Bieber LL 1988 Carnitine. Annu Rev Biochem 57:261-283
24. Garavaglia B, Uziel G, Dworzak F, Carrara F, DiDonato S 1991 Primary carnitine deficiency: heterozygote and intrafamilial phenotypic variation. Neurology 41:1691-1693
25. Erikson BO, Gustafson B, Lindstedt S, Nordin I 1989 Transport of carnitine into cells in hereditary camitine deficiency. J Inherited Metab Dis 12:108-111
26. Miranda AF 1994 Disease muscle in tissue culture. In: Engel AG and Franzini-Amstrong CL (eds) Myology: Basic and Clinical, Vol I, 2nd Ed. MacGraw-Hill, New York, pp 1045-1071
27. Stanley CA 1987 New genetic defects in mitochondrial fatty acid oxidation and camitine deficiency. Adv Pediatr 34:59-88
28. Stanley CA 1991 Carnitine disorders. Adv Pediatr 42:208-243