Neutral lipid storage disease with fatty liver and cholestasis

Journal of Pediatric Gastroenterology and Nutrition

Volumn 25, Issue 5, 1997, Pages 541-547

  Igal, R Ariel ^a   Rhoads, J Marc ^b   Coleman, Rosalind A ^a,b  

^a IL   (United States)

^b UNIVERSITY OF NORTH CAROLINA SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DOCOSAHEXAENOIC ACID; ICOSAPENTAENOIC ACID; OMEGA 3 FATTY ACID; URSODEOXYCHOLIC ACID;

ARTICLE; CASE REPORT; CATARACT; CHOLESTASIS; CLINICAL FEATURE; FATTY LIVER; FEMALE; HEPATOMEGALY; HUMAN; LIPIDOSIS; LIVER FUNCTION TEST; PRIORITY JOURNAL; SCHOOL CHILD;

CELLS, CULTURED; CHOLESTASIS; CONSANGUINITY; FATTY LIVER; FEMALE; FIBROBLASTS; HUMANS; ICHTHYOSIS; INFANT; LIPID METABOLISM, INBORN ERRORS; MENTAL RETARDATION; NEUTROPHILS; TRIGLYCERIDES; VACUOLES;

EID: 0030777672     PISSN: 02772116     EISSN: None     Source Type: Journal    
DOI: 10.1097/00005176-199711000-00011     Document Type: Article

References (48)

1. Chanarin I, Patel A, Slavin G, Wills EJ, Andrews TM, Stewart G. Neutral-lipid storage disease: A new disorder of lipid metabolism. BMJ 1975;1:553-5.
2. Slavin G, Wills EJ, Richmond JE, Chanarin F, Andrews T, Stewart G. Morphological features in a neutral lipid storage disease. J Clin Pathol 1975;28:701-10.
3. Igal RA, Coleman RA. Evidence in neutral lipid storage disease cells for defective triacylglycerol-phospholipid recycling. J Biol Chem 1996;271:16644-51.
4. Rozenszajn L, Klajman A, Yaffe D, Efrati P. Jordans' anomaly in white blood cells. Blood 1966;2:258-65.
5. Dorfman ML, Hershko C, Eisenberg S, Sagher F. Ichthyosiform dermatosis with systemic lipidosis. Arch Dermatol 1974;110: 261-6.
6. Angelini C, Philippart M, Borrone C, Bresolin N, Cantini M, Lucke S. Multisystem triglyceride storage disorder with impaired long-chain fatty acid oxidation. Ann Neurol 1978;7:5-10.
7. Miranda A, DiMauro S, Eastwood A, et al. Lipid storage myopathy, ichthyosis, and steatorrhea. Muscle Nerve 1979;2:1-13.
8. McKeran RO, Royston JP, Ward P, Slavin G. Two populations of type I fibres in striated muscle from a case of neutral lipid storage disease. J Neurol Sci 1979;43:1-12.
9. Williams ML, Koch TK, O'Donnell JJ, Frost PH, Epstein LB, Grizzard WS, Epstein CJ. Ichthyosis and neutral lipid storage disease. Am J Med Genet 1985;20:711-26.
10. Srebrnik A, Tur E, Perluk C, Elman M, Messer G, Ilie B, Krakowski A. Dorfman-Chanarin syndrome. J Am Acad Dermatol 1987;17:801-8.
11. DiDonato S, Garavaglia B, Strisciuglio P, Borrone C, Andria G. Multisystem triglyceride storage disease is due to a specific defect in the degradation of endocellularly synthesized triglycerides. Neurology 1988;38:1107-10.
12. Musumeci S, D'Agata A, Romano C, Patané R, Curtrona D. Ichthyosis and neutral lipid storage disease. Am J Med Genet 1988; 29:377-82.
13. Venencie PY, Armengaud D, Foldes C, Vieillefond A, Coulombel L, Hadchouel M. Ichthyosis and neutral lipid storage disease (Dorfman-Chanarin syndrome). Pediatr Dermatol 1988;5:173-7.
14. Wolf R, Zaritzky A, Pollak S. Value of looking at leukocytes in every case of ichthyosis. Dermatologica 1988;177:237-40.
15. Nanda A, Sharma R, Kanwar AJ, Kaur S, Dash S. Dorfman-Chanarin syndrome. Int J Dermatol 1990;5:349-51.
16. Vergani L, Fanin M, Martinuzzi A, et al. Liver fatty acid-binding protein in two cases of human lipid storage. Mol Cell Biochem 1990;98:225-30.
17. Bergman R, Aviram M, Bitterman-Deutsch O, et al. Neutral lipid storage disease with ichthyosis: Serum apolipoprotein levels and cholesterol metabolism in monocyte-derived macrophages. J Inherit Metab Dis 1991;14:241-6.
18. Dursun A, Kubar A, Gokoz A, Duru F, Gürgey A. Neutral lipid storage disease co-existing with ichthyosiform dermatosis. Eur J Pediatr 1993;153:210-1.
19. Judge MR, Atherton DJ, Salvayre R, et al. Neutral lipid storage disease. Case report and lipid studies. Br J Dermatol 1994;130: 507-10.
20. Bañuls J, Betlloch I, Botella R, Sevila A, Morell A, Román P. Dorfman-Chanarin syndrome (neutral lipid storage disease). Clin Exp Dermatol 1994;19:434-7.
21. Bligh EG, Dyer WJ. A rapid method of total lipid extraction and purification. Can J Biochem Physiol 1959;37:911-7.
22. Labarca C, Paigen K. A simple, rapid and sensitive DNA assay procedure. Anal Biochem 1960;102:344-52.
23. Williams ML, Monger DJ, Rutherford SL, Hincenbergs M, Rehfeld SJ, Grunfeld C. Neutral lipid storage disease with ichthyosis: Lipid content and metabolism of fibroblasts. J Inherit Metab Dis 1988;11:131-43.
24. Salvayre R, Negre A, Radom J, Douste-Blazy L. Independence of triacylglycerol-containing compartments in cultured fibroblasts from Wolman disease and multisystemic lipid storage myopathy. FEBS Lett 1989;250:35-9.
25. Williams ML, Coleman RA, Placezk D, Grunfeld C. Neutral lipid storage disease: A possible functional defect in phospholipid-linked triacylglycerol metabolism. Biochim Biophys Acta 1991; 1096:162-9.
26. Jordans GHW. The familial occurrence of fat containing vacuoles in the leukocytes diagnosed in two brothers suffering from dystrophia musculorum progressiva (ERB). Acta Med Scand 1953;145: 419-23.
27. Radom J, Salvayre R, Negre A, Maret A, Douste-Blazy L. Metabolism of neutral lipids in cultured fibroblasts from multisystemic (or type 3) lipid storage myopathy. Eur J Biochem 1987; 164:703-8.
28. Wessalowski R, Schroten H, Neuen-Jacob E, Reichmann H, Melnik BC, Lenard HG, Voit T. Multisystem triglyceride storage disorder without ichthyosis in two siblings. Acta Paediatr 1994;83: 93-8.
29. Ibayashi H, Ideguchi H, Harada N, Ishimoto S, Goto I. Systemic triglyceride storage disease with normal carnitine: A putative defect in long-chain fatty acid metabolism. J Neurol Sci 1988;85: 149-59.
30. Snyder TM, Little BW, Roman-Campos G, McQuillen JB. Successful treatment of familial idiopathic lipid storage myopathy with L-carnitine and modified lipid diet. Neurology 1982;32:1106-15.
31. Tsuda H, Okabe Y, Matsuda S, et al. A case with many vacuoles in the cytosol of granulocytes. Rinsho Ketsueki 1975;16:367-8.
32. Ohtsuka Y, Sakamoto Y, Kajihara N, et al. A case with many vacuoles in the cytosol of both granulocytes and heart muscle. Rinsho Ketsueki 1979;20:165.
33. Takahira T, Utsunomiya T, Ishijima M, Mori H, Yano K, Nunobiki T, Eto H. Specific myocardial disease caused by multisystemic triglyceride storage in Jordans' anomaly. Am Heart J 1993;126: 995-7.
34. Sakurai I, Sasaki M, Yamada T, Sakamoto K, Kajiwara N, Takanaka M. A case of systemic triglyceridosis with Jordans' anomaly and metabolic cardiomyopathy. Byori Rinsho 1983;1:341-7.
35. Hasebe M. A case of Jordans' anomaly. Rinsho Ketsueki 1983;24: 553-8.
36. Adachi H, Yumoto T, Takeda I, Ozaki M, Matsumoto N, Ishihara T, Uchino F. Two familial cases of Jordans' anomaly. Ultrastructural studies and the development of fat-containing vacuoles in the neutrophilic series. Acta Pathol Jpn 1989;39:254-9.
37. Radom J, Salvayre R, Negre A, Douste-Blazy L. Metabolism of pyrenedecanoic acid in Epstein-Barr virus-transformed lymphoid cell lines from normal subjects and from a patient with multisystemic lipid storage myopathy. Biochim Biophys Acta 1989;1005: 130-6.
38. Hilaire N, Negre-Salvayre A, Salvayre R. Cytoplasmic triacylglycerols and cholesteryl esters are degraded in two separate catabolic pools in cultured human fibroblasts. FEBS Lett 1993;328: 230-4.
39. Hilaire N, Negre-Salvayre A, Salvayre R. Cellular uptake and catabolism of high-density lipoprotein triacylglycerols in human cultured fibroblasts: Degradation block in neutral lipid storage disease. Biochem J 1994;297:467-73.
40. Hilaire N, Salvayre R, Thiers J-C, Bonnafe M-J, and Negre-Salvayre A. The turnover of cytoplasmic triacylglycerol in human fibroblasts involves two separate acyl chain length-dependent degradation pathways. J Biol Chem 1995;270:27027-34.
41. Roe CR, Coates PM. Mitochondrial fatty acid oxidation disorders. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The metabolic basis of inherited disease. New York: McGraw-Hill, 1995:1501-33.
42. Baldridge AD, Perez-Atayde AR, Graeme-Cook F, Higgins L, Lavine JE. Idiopathic steatohepatitis in childhood: A multicenter retrospective study. J Pediatr 1995;127:700-4.
43. Chen Y-T, Burchell A. Glycogen storage disease. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The metabolic basis of inherited disease. New York: McGraw-Hill, 1995:935-66.
44. Cook HW, Spence MW. Triacylglycerol as a precursor in phospholipid biosynthesis in cultured neuroblastoma cells: Studies with labeled glucose, fatty acids, and triacylglycerol. Can J Biochem Cell Biol 1985;63:919-26.
45. Yao Z, Vance DE. The active synthesis of phosphatidylcholine is required for very low density lipoprotein secretion from rat hepatocytes. J Biol Chem 1988;263:2998-3004.
46. Markesbery WR, McQuillen MP, Procopis PG, Harrison AR, Engel AG. Muscle carnitine deficiency. Arch Neurol 1974;31:320-24.
47. Ware AJ, Burton WC, McGarry JD, Marks JF, Weinberg AG. Systemic carnitine deficiency: Report of a fatal case with multi-systemic manifestations. J Pediatr 1978;93:959-64.
48. Smyth DPL, Lake BD, MacDermot J, Wilson J. Inborn error of carnitine metabolism ("carnitine deficiency") in man. Lancet 1975;1:1198-9.