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.
引用
收藏
页码:145 / +
页数:29
相关论文
共 85 条
[1]   HISTOLOGIC PATHOLOGY OF THE LIVER IN PROGRESSIVE FAMILIAL INTRAHEPATIC CHOLESTASIS [J].
ALONSO, EM ;
SNOVER, DC ;
MONTAG, A ;
FREESE, DK ;
WHITINGTON, PF .
JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION, 1994, 18 (02) :128-133
[2]  
Balistreri WF, 1995, FALK SYMP, V80, P333
[3]   FETAL AND NEONATAL BILE-ACID SYNTHESIS AND METABOLISM - CLINICAL IMPLICATIONS [J].
BALISTRERI, WF .
JOURNAL OF INHERITED METABOLIC DISEASE, 1991, 14 (04) :459-477
[4]  
BALISTRERI WF, 1996, PREGNANCY SEX HORMON
[5]  
BALISTRERI WF, 1987, SEMINARS LIVER DIS
[6]  
BALISTRERI WF, 1998, DIS LIVER
[7]   URINARY-EXCRETION OF DICARBOXYLIC-ACIDS FROM PATIENTS WITH THE ZELLWEGER SYNDROME - IMPORTANCE OF PEROXISOMES IN BETA-OXIDATION OF DICARBOXYLIC-ACIDS [J].
BJORKHEM, I ;
BLOMSTRAND, S ;
HAGA, P ;
KASE, BF ;
PALONEK, E ;
PEDERSEN, JI ;
STRANDVIK, B ;
WIKSTROM, SA .
BIOCHIMICA ET BIOPHYSICA ACTA, 1984, 795 (01) :15-19
[8]  
BJORKHEM I, 1995, METABOLIC MOL BASES
[9]   LACK OF 3-BETA-HYDROXY-DELTA-5-C-27-STEROID DEHYDROGENASE ISOMERASE IN FIBROBLASTS FROM A CHILD WITH URINARY-EXCRETION OF 3-BETA-HYDROXY-DELTA-5-C-27-BILE ACIDS - A NEW INBORN ERROR OF METABOLISM [J].
BUCHMANN, MS ;
KVITTINGEN, EA ;
NAZER, H ;
GUNASEKARAN, T ;
CLAYTON, PT ;
SJOVALL, J ;
BJORKHEM, I .
JOURNAL OF CLINICAL INVESTIGATION, 1990, 86 (06) :2034-2037
[10]   DYSMORPHIC SYNDROME WITH PHYTANIC ACID OXIDASE DEFICIENCY, ABNORMAL VERY LONG-CHAIN FATTY-ACIDS, AND PIPECOLIC ACIDEMIA - STUDIES IN 4 CHILDREN [J].
BUDDEN, SS ;
KENNAWAY, NG ;
BUIST, NRM ;
POULOS, A ;
WELEBER, RG .
JOURNAL OF PEDIATRICS, 1986, 108 (01) :33-39