Advertisement

Familial Lipoprotein Deficiency

  • G. Assmann
Part of the NATO Advanced Study Institutes Series book series (NSSA, volume 15)

Abstract

There are three genetically determined disorders in which one or more of the lipoprotein families are absent from plasma or their concentrations are extremely low: abetalipoproteinemia, hypobetalipoproteinemia, and Tangier disease (familial high density lipoprotein deficiency). Hypocholesterolemia is a common manifestation of all these diseases, which most easily can be distinguished on the basis of clinical symptoms and lipoprotein patterns.

Keywords

Retinitis Pigmentosa Inherit Disease Lipoprotein Abnormality Tangier Disease Lipoprotein Family 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

References

Review articles

  1. Schwartz,J.F.,Rowland,L.P.,Eder,H.,Marks,P.A.,Ossermann, E.F.,Hirschberg,E.,Anderson,H. (1963) Bassen-Kornzweig syndrome: deficiency of serum ß-lipoprotein Arch.Neurol. 8, 438Google Scholar
  2. Isselbacher,K.J.,Scheig,R.,Plotkin,G.R.,Caufield,J.B. (1964) Congenital ß-lipoprotein deficiency: an hereditary disorder involving a defect in the absorption and transport of lipids. Medicine 43, 347Google Scholar
  3. Wolff,O.H. (1965) A-beta-lipoproteinemia Ergebn.Inn.Med.Kinderheilk. 23, 190Google Scholar
  4. Farauhar,J.W.,Ways,P. (1966) Abetalipoproteinemia The Metabolic Basis of Inherited Disease, 2nd ed.B.Stanbury,J.B.Wyngaarden,D.S.Fredrickson,eds., McGraw-Hill,New YorkGoogle Scholar
  5. Kahlke,W. (1967) A-ß-lipoproteinemia Lipids and Lipidoses, ed. by G.Schettler Springer Verlag, New YorkGoogle Scholar
  6. Fredrickson,D.S., Gotto,A.M., Levy,R.I. (1972) Familial lipoprotein deficiency The Metabolic Basis of Inherited Disease, 3rd ed.B.Stanburv,J.B.Wyngaarden,D.S.Fredrickson,eds., McGraw-Hill,New YorkGoogle Scholar
  7. Kayden,H.J. (1972) Abetalipoproteinemia Amer.Rev.Med. 23, 285CrossRefGoogle Scholar
  8. Kostner,G. (1976) ApoB-deficiency (Abetalipoproteinemia): A model for studying the lipoprotein metabolism Lipid Absorption: Biochemical and clinical aspects K.Rommel,H.Goebell,R.Böhmer, eds.,MTP PressGoogle Scholar
  9. Herbert,P.N., Fredrickson,D.S. (1976) The Hypobetalipoproteinemias Fettstoffwechsel,Handbuch der inneren Medizin.Fünfte Auflage,Band 7,Stoffwechselkrankheiten, 4. Teil G.Schettler,H.Greten,G.Schlierf,D.Seidel, eds., Springer-Verlag,New YorkGoogle Scholar

lipoprotein abnormalities in abetalipoproteinemia

  1. Levy,R.I.,Fredrickson,D.S.,Laster,L. (1966) The lipoproteins and lipid transport in abetalipoproteinemia J.Clin.Invest. 45, 531Google Scholar
  2. Jones,J.W., Ways,P. (1967) Abnormalities of high density lipoproteins in abetalipoproteinemia. J.Clin.Invest. 46, 1151CrossRefGoogle Scholar
  3. Lees,R.S. (1967) Immunological evidence for the presence of B protein (apoprotein of ß-lipoprotein) in normal and abetalipoproteinemic plasma J.Lipid Res. 8, 396Google Scholar
  4. Lees,R.S., Ahrens,E.H.,Jr. (1969) Fat transport in abetalipoproteinemia New Engl. J. Med. 280, 1261Google Scholar
  5. Gotto,A.M., Levy,R.I., John,K., Fredrickson,D.S. (1971) On the nature of the protein defect in abetalipoproteinemia New Engl. J. Med. 284, 813 (1971)Google Scholar
  6. Forte,T., Nichols,A.V. (1972) Application of electron microscopy to the study of plasma lipoprotein structure Advanc.Lipid Res. L0, 1Google Scholar
  7. Kostner,G., Holasek,A., Bohlmann,H.G., Thiede,H. (1974) Investigation of serum lipoproteins and apoproteins in abetalipoproteinemia Clin.Sci.molec.Med. 46, 457Google Scholar
  8. Scanu,A.M., Aggerbeck,L.P., Kruski,A.W., Lim,C.T. Kayden,H.J. (1974) A study of the abnormal lipoproteins in abetalipoproteinemia J.Clin.Invest. 53, 440Google Scholar

case reports

  1. Salt,H.B., Wolff,O.H., Lloyd,J.K., Fosbrooke,A.S., Cameron,A.H., Hubble,D.V. (196o) On having no beta lipoprotein. A syndrome comprising a-beta-lipoproteinemia, acanthocytosis, and steatorrhea Lancet II, 325Google Scholar
  2. Van Buchem,F.S.P., Pol,G., de Gier,J., Böttcher,C.J.F., Pries,C. (1966) Congenital ß-lipoprotein deficiency Amer.J.Med. 40, 794Google Scholar
  3. Mars,H., Lewis,L.A., Robertson,A.L.,Jr., Butkus,A., Williams,G.H.,Jr. (1969) Familial hypo-ß-lipoproteinemia. A genetic disorder of lipid metabolism with nervous system involvement Amer.J.Med. 46, 886Google Scholar
  4. Richet,G., Durepaire,H., Hartmann,L., o11ier,M.P., Polonovski,J., Maitrot,B. (1969) Hypolipoproteinemie familiale asymptomatiaue predominant sur les beta-lipoproteines Presse med. 77, 2045Google Scholar
  5. Levy,R.I., Langer,T., Gotto,A.M., Fredrickson,D.S. (1970) Familial hypobetalipoproteinemia, a defect in lipoprotein synthesis. Clin.Res. 18, 539Google Scholar
  6. Mawatari,S., Iwashita,H., Kuroiwa,Y. (1971) Familial hypo-ß-lipoproteinemia J.neuro.Sci. 16, 93Google Scholar
  7. Fosbrooke,A., Choksey,S., Wharton,B. (1973) Familial hypo-ß-lipoproteinemia Arch.Dis.Childh. 48, 729Google Scholar
  8. Brown,B.J., Lewis,L.A., Mercer,R.D. (1974) Familial hypobetalipoproteinemia: report of a case with psycho-motor retardation Pediatrics 54, 11Google Scholar
  9. Aggerbeck,L.P., McMahon,J.P., Scanu,A (1974) Hypobetalipoproteinemia: Clinical and biochemical description of a new kindred with Friedreich’s ataxia Neurology 24, 1051Google Scholar
  10. Cottrill,C., Glueck,C.J., Leuba,V., Millett,F., Puppione,D., Brown,W.V. (1974) Familial homozygous hypobetalipoproteinemia Metabolism 23, 779Google Scholar
  11. Biemer,J.J., McCammon,R.E. (1975) The genetic relationship of abetalipoproteinemia and hypobetalipoproteinemia: a report of the occurence of both diseases within the same family J.Lab.clin.Med. 85, 556Google Scholar
  12. Naito,H.K., Lewis,L.A. (1975) Serum lipoproteins and lipids of familial hyper-,hypo-, or normo-ß-lipoproteinemic subjects during pregnancy Clin.Chem. 21, 990Google Scholar
  13. Tamir,I., Levtow,O., Lotan,D., Lequin,C., Heldenberg,D., Werbin,B. (1976) Further observations on familial hypobetalipoproteinemia Clin.Genet. 9, 149Google Scholar
  14. Glueck,C.J., Tsang,R.C., Mellies,M.J., Fallat,R.W., Steiner,P.M. (1976) Neonatal familial hypobeta-lipoproteinemia Metabolism 25, 611Google Scholar
  15. Glueck,C.J., Gartside,P., Fallat,R.W., Sielski,J., Steiner,P.M. (1976) Longevity syndromes: familial hypobeta-and familial hyperalphalipoproteinemia J.Lab.Clin.Med. 88, 941Google Scholar

Review articles

  1. Fredrickson,D.S., Altrocchi,P.H. (1962) Tangier disease (Familial cholesterolosis with high-density lipoprotein deficiencyGoogle Scholar
  2. Cerebral Sphingolipidoses,A symposium on Tay Sachs Disease and allied disorders, S.M.Aronson,B.W.Volk,eds. Academic Press, New YorkGoogle Scholar
  3. Fredrickson,D.S. (1966) Familial high-density lipoprotein deficiency: Tangier disease The Metabolic Basis of Inherited Disease, Ilnd. ed. J.B.Stanbury,J.B.Wyngaarden,D.S.Fredrickson,eds. McGraw-Hill, New YorkGoogle Scholar
  4. Fredrickson,D.S.,Gotto,A.M., Levy,R.I. (1972) Familial lipoprotein deficiency The Metabolic Basis of Inherited Disease, IIIrd. ed. J.B.Stanbury,J.B.Wyngaarden,D.S.Fredrickson McGraw-Hill, New YorkGoogle Scholar
  5. Assmann,G. (1976) Tangier Krankheit Fettstoffwechsel. Handbuch der inneren Medizin. Fünfte Auflage. Band 7. Stoffwechselkrankheiten. 4. Teil G.Schettler,H.Greten,G.Schlierf,D.Seidel, eds. Springer Verlag, New YorkGoogle Scholar

case reports

  1. Fredrickson,D.S., Altrocchi,P.H., Avioli,L.V., Goodman,D.S., Goodman,H.C. (1961) Tangier disease. Combined clinical staff conference at the National Institutes of Health. Ann.Intern.Med. 55, 1016Google Scholar
  2. Fredrickson,D.S., Young,O., Shiratori,T., Briggs,N. (1964) The inheritance of high density lipoprotein deficiency (Tangier disease) J.Clin.Invest. 43, 228Google Scholar
  3. Hoffman,H.N., Fredrickson,D.S. (1965)Tangier disease (familial high density lipoprotein deficiency). Clinical and genetic features in two adults. Am.J.Med. 39, 582Google Scholar
  4. Kocen,R.S., Lloyd,J.K., Lascelles,P.T., Fosbrook,A.S. Williams,D. (1967) Familial alpha-lipoprotein deficiency (Tangier disease) with neurological abnormalities Lancet I, 1341Google Scholar
  5. Kummer,H., Laissue,J., Spiess,H., Pflugshaupt,R., Bucher,U (1968) Familiäre Analphalipoproteinämie (Tangier Krankheit) Schweiz.med.Wschr. 98, 406Google Scholar
  6. Huth,K., Kracht,J., Schoenborn,W., Fuhrmann,W. (197o) Tangier-Krankheit (Hyp-alpha-lipoproteinämie) Dtsch.med.Wschr. 95, 23–57Google Scholar
  7. Clifton-Bligh,P., Nestel,P.J., Whyte,H.M. (1972) Tangier disease: report of a case and studies of lipid metabolism New Engl.J.Med. 286, 567Google Scholar
  8. Greten,H., Hannemann,T., Gusek,W., Vive11,O. (1974) Lipoproteins and lipolytic plasma enzymes in a case of Tangier disease New Engl.J.Med. 291, 548Google Scholar
  9. Brook,J.G., Lees,R.S., Yules,J., Cusack,B. (1977) Tangier disease in New England-report of a case JAMA (J.Am.Med.Assoc.) in pressGoogle Scholar

lipoprotein abnormalities

  1. Lux,S.E., Levy,R.I., Gotto,A.M., Fredrickson,D.S. (1972) Studies on the protein defect in Tangier disease. Isolation and characterization of an abnormal high density lipoprotein J.Clin.Invest. 51, 2505Google Scholar
  2. Kostner,G., Holasek,A., Schoenborn,W., Fuhrmann,W. (1972) Immunchemische Untersuchung und isoelektrische Fokussierung des Serums eines Patienten mit Tangier Krankheit Clin.chim.Acta 38, 155Google Scholar
  3. Utermann,G., Menzel,H.J., Schoenborn,W. (1972) Plasma lipoprotein abnormalities in a case of primary high-density lipoprotein (HDL) deficiency Clin.Genetics 8, 258Google Scholar
  4. Assmann,G., Smootz,E., Adler,K., Capurso,A., Oette,K. (1977) The lipoprotein abnormality in Tangier disease. Quantitation of A apoproteins J.Clin.Invest. 59, 565Google Scholar
  5. Assmann,G., Herbert,P.N., Fredrickson,D.S., Forte,T. (1977) Isolation and characterization of an abnormal high density lipoprotein in Tangier disease J.Clin.Invest., in pressGoogle Scholar
  6. Assmann,G., Simantke,O., Schaefer,H.E., Smootz,E. (1977) Characterization of high density lipoproteins in patients heterozygous for Tangier disease J.Clin.Invest., in pressGoogle Scholar

tissue abnormalities

  1. Waldorf,D.S., Levy,R.I., Fredrickson,D.S. (1967) Cutaneous cholesterol ester deposition in Tangier disease Arch.Derm. 95, 161Google Scholar
  2. Engel,W.K., Dorman,J.D., Levy,R.I., Fredrickson,D.S. (1967) Neuropathy in Tangier disease. Alpha-lipoprotein deficiency manifesting as familial recurrent neuropathy and intestinal lipid storage Arch.Neurol. ( Chic. ) 17, 1Google Scholar
  3. Shacklady,M.M., Djardjouras,E.M., Lloyd.J.K. (1968) Red-cell lipids in familial alpha-lipoprotein deficiency (Tangier disease) Lancet II, 151Google Scholar
  4. Spiess,H., Ludin,H.P., Kummer,H. (1969) Polyneuropathie bei familiärer Analphalipoproteinämie Nervenarzt 40, 191Google Scholar
  5. Kracht,J., Huth,K., Schoenborn,W., Fuhrmann,W. (1970) Hypo-alpha-lipoproteinämie (Tangier Disease) Verhdl.Dtsch.Ges.Path. 54, 355Google Scholar
  6. Bale,P.M., Clifton-Bligh,P., Benjamin,B.N.P., Whyte,H.M. (1971) Pathology of Tangier disease J.Clin.Pathol. (Lond.) 24, 609Google Scholar
  7. Kocen,R.S., King,R.H.M., Thomas,P.K., Haas,L.F. (1973) Nerve biopsy findings in two cases of Tangier disease Acta Neuropath. 26, 317Google Scholar
  8. Ferrans,V.J., Fredrickson,D.S. (1975) The pathology of Tangier disease Amer.J.Pathol. 78, 101Google Scholar
  9. Gheorghiu,Th., Assmann,G., Schaefer,H.E. (1976) Endoscopic findings in Tangier disease. Endoscopy 8, 164CrossRefGoogle Scholar
  10. Katz,S.S., Small,D.M., Brook,J.G., Lees,R.S. (1977) The storage lipids in Tangier disease. A physical chemical study J.Clin.Invest. 59, 1045Google Scholar

Copyright information

© Plenum Press, New York 1978

Authors and Affiliations

  • G. Assmann
    • 1
  1. 1.Klinische ChemieUniversität Köln5 KölnWest Germany

Personalised recommendations