Inborn errors of bile acid biosynthesis and transport - Novel forms of metabolic liver disease

被引:27
作者
Balistreri, WF [1 ]
机构
[1] Childrens Hosp, Med Ctr, Div Pediat Gastroenterol & Nutr & Liver Trtanspla, Cincinnati, OH 45229 USA
关键词
D O I
10.1016/S0889-8553(05)70048-0
中图分类号
R57 [消化系及腹部疾病];
学科分类号
摘要
Defective bile acid biosynthesis, metabolism, and transport can now be delineated in a wide variety of disease states. This ability to recognize specific aberrations, such as the documented inborn errors in bile acid biosynthesis manifesting as neonatal cholestasis, offers new opportunities for therapeutic intervention. Future studies should determine the incidence of bile acid biosynthetic and transport defects in patients with enigmatic and unexplained liver diseases.
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收藏
页码:145 / +
页数:29
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共 85 条
  • [21] Courillon F, 1997, EUR J CLIN CHEM CLIN, V35, P919
  • [22] DEFICIENCY OF ENZYMES CATALYZING THE BIOSYNTHESIS OF GLYCEROL ETHER LIPIDS IN ZELLWEGER SYNDROME - A NEW CATEGORY OF METABOLIC DISEASE INVOLVING THE ABSENCE OF PEROXISOMES
    DATTA, NS
    WILSON, GN
    HAJRA, AK
    [J]. NEW ENGLAND JOURNAL OF MEDICINE, 1984, 311 (17) : 1080 - 1083
  • [23] RESOLUTION OF LIVER-BIOPSY ALTERATIONS IN 3 SIBLINGS WITH BILE-ACID TREATMENT OF AN INBORN ERROR OF BILE-ACID METABOLISM (DELTA(4)-3-OXOSTEROID 5-BETA-REDUCTASE DEFICIENCY)
    DAUGHERTY, CC
    SETCHELL, KDR
    HEUBI, JE
    BALISTRERI, WF
    [J]. HEPATOLOGY, 1993, 18 (05) : 1096 - 1101
  • [24] Mutations in the MDR3 gene cause progressive familial intrahepatic cholestasis
    De Vree, JML
    Jacquemin, E
    Sturm, E
    Cresteil, D
    Bosma, PJ
    Aten, J
    Deleuze, JF
    Desrochers, M
    Burdelski, M
    Bernard, O
    Elferink, RPJO
    Hadchouel, M
    [J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1998, 95 (01) : 282 - 287
  • [25] Defect of multidrug-resistance 3 gene expression in a subtype of progressive familial intrahepatic cholestasis
    Deleuze, JF
    Jacquemin, E
    Dubuisson, C
    Cresteil, D
    Dumont, M
    Erlinger, S
    Bernard, O
    Hadchouel, M
    [J]. HEPATOLOGY, 1996, 23 (04) : 904 - 908
  • [26] ELK J, 1986, J PEDIATR, V108, P19
  • [27] SCREENING TECHNIQUES FOR THE DETECTION OF INBORN-ERRORS OF BILE-ACID METABOLISM BY DIRECT INJECTION AND MICRO-HIGH PERFORMANCE LIQUID-CHROMATOGRAPHY CONTINUOUS-FLOW FAST-ATOM-BOMBARDMENT MASS-SPECTROMETRY
    EVANS, JE
    GHOSH, A
    EVANS, BA
    NATOWICZ, MR
    [J]. BIOLOGICAL MASS SPECTROMETRY, 1993, 22 (06) : 331 - 337
  • [28] BILE-ACID ABNORMALITIES AND THE DIAGNOSIS OF CEREBRO-HEPATO-RENAL SYNDROME (ZELLWEGER SYNDROME)
    EYSSEN, H
    EGGERMONT, E
    VANELDERE, J
    JAEKEN, J
    PARMENTIER, G
    JANSSEN, G
    [J]. ACTA PAEDIATRICA SCANDINAVICA, 1985, 74 (04): : 539 - 544
  • [29] PSEUDO-ZELLWEGER SYNDROME - DEFICIENCIES IN SEVERAL PEROXISOMAL OXIDATIVE ACTIVITIES
    GOLDFISCHER, S
    COLLINS, J
    RAPIN, I
    NEUMANN, P
    NEGLIA, W
    SPIRO, AJ
    ISHII, T
    ROELS, F
    VAMECQ, J
    VANHOOF, F
    [J]. JOURNAL OF PEDIATRICS, 1986, 108 (01) : 25 - 32
  • [30] PEROXISOMAL AND MITOCHONDRIAL DEFECTS IN CEREBRO-HEPATO-RENAL SYNDROME
    GOLDFISCHER, S
    MOORE, CL
    JOHNSON, AB
    SPIRO, AJ
    VALSAMIS, MP
    WISNIEWSKI, HK
    RITCH, RH
    NORTON, WT
    RAPIN, I
    GARTNER, LM
    [J]. SCIENCE, 1973, 182 (4107) : 62 - 64