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Literature DB >> 2502670

Transport of carnitine into cells in hereditary carnitine deficiency.

B O Eriksson¹, B Gustafson, S Lindstedt, I Nordin.

Abstract

Carnitine uptake has been studied in fibroblasts from a case of hereditary carnitine deficiency and in relatives. There was no evidence for carrier-dependent uptake in cells from the patient. The mother and probably the healthy sister had an impaired uptake. The results show that the defect in this form of carnitine deficiency is an inability to establish a concentration gradient over the cell membrane.

Entities: Chemical Disease Species

Mesh：

Substances：
Carnitine

Year: 1989 PMID： 2502670 DOI： 10.1007/bf01800711

Source DB: PubMed Journal: J Inherit Metab Dis ISSN： 0141-8955 Impact factor: 4.982

12 in total

1. Hereditary defect in carnitine membrane transport is expressed in skin fibroblasts.

Authors: B O Eriksson; S Lindstedt; I Nordin
Journal: Eur J Pediatr Date: 1988-08 Impact factor: 3.183

2. Carnitine uptake and fatty acid utilization by diploid cells aging in culture.

Authors: H H Carnicero; S Englard; S Seifter
Journal: Arch Biochem Biophys Date: 1982-04-15 Impact factor: 4.013

3. Systemic carnitine deficiency presenting as familial endocardial fibroelastosis: a treatable cardiomyopathy.

Authors: M E Tripp; M L Katcher; H A Peters; E F Gilbert; S Arya; R J Hodach; A L Shug
Journal: N Engl J Med Date: 1981-08-13 Impact factor: 91.245

4. Transport of dibasic amino acids, cystine, and tryptophan by cultured human fibroblasts: absence of a defect in cystinuria and Hartnup disease.

Authors: U Groth; L E Rosenberg
Journal: J Clin Invest Date: 1972-08 Impact factor: 14.808

5. Carnitine transport in rat small intestine.

Authors: R D Shaw; B U Li; J W Hamilton; A L Shug; W A Olsen
Journal: Am J Physiol Date: 1983-09

6. Carnitine transport in cultured muscle cells and skin fibroblasts from patients with primary systemic carnitine deficiency.

Authors: C J Rebouche; A G Engel
Journal: In Vitro Date: 1982-05

7. Lysinuric protein intolerance mutation is expressed in the plasma membrane of cultured skin fibroblasts.

Authors: D W Smith; C R Scriver; H S Tenenhouse; O Simell
Journal: Proc Natl Acad Sci U S A Date: 1987-11 Impact factor: 11.205

8. Systemic carnitine deficiency--a treatable inherited lipid-storage disease presenting as Reye's syndrome.

Authors: P R Chapoy; C Angelini; W J Brown; J E Stiff; A L Shug; S D Cederbaum
Journal: N Engl J Med Date: 1980-12-11 Impact factor: 91.245

9. Primary systemic carnitine deficiency under successful therapy: clinical, biochemical, ultrahistochemical and renal clearance studies.

Authors: W von Petrykowski; U P Ketelsen; E Schmidt-Sommerfield; D Penn; E Sawicka; E Struck; W Lehnert; K Haap; H M Strassburg
Journal: Clin Neuropathol Date: 1985 Mar-Apr Impact factor: 1.368

10. Carnitine deficiency presenting as familial cardiomyopathy: a treatable defect in carnitine transport.

Authors: L J Waber; D Valle; C Neill; S DiMauro; A Shug
Journal: J Pediatr Date: 1982-11 Impact factor: 4.406

5 in total

Review 1. L-Carnitine.

Authors: J H Walter
Journal: Arch Dis Child Date: 1996-06 Impact factor: 3.791

5. Transient reduction of human left ventricular mass in carnitine depletion induced by antibiotics containing pivalic acid.

Authors: K Abrahamsson; M Mellander; B O Eriksson; E Holme; U Jodal; A Jönsson; S Lindstedt
Journal: Br Heart J Date: 1995-12