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Summary
CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 1 PFIC1
BYLER DISEASE
211600
OMIM = Online Medalian Inheritance of Men
172
18q21
  • liver transplantation
  • partial biliary diversion
rare (1:90000)
autosomal recessive
mutation in the ATP8B1 gene
symptoms
cholecystitis
cholestasis
cirrhosis or fibrosis of liver
Coagulopathy/Coagulation factors
failure to thrive
gallstones, cholelithiasis
hepatoma
hepatomegaly (large liver)
infections (respiratory tract/system)
jaundice
liver failure
nose bleed
onset, infancy
pruritus
rickets
steatorrhea
laboratory finding
Bile acids, total0.250.350.190.29mmol/lserum
Bile acids, total 2.505.70172.10mmol/lbile
Bilirubin51.00170.003.4017.00-Ámol/lserum
gamma-Glutamyl transpeptidase 8.0090.00normal/lowserum
Vitamin A 0.701.50decreasedserum
Vitamin E 7.0021.00decreasedserum
Vitamin D2, 25-Hydroxyvitamin D 24.00120.00decreasedserum
Phosphatase, alkaline 20.00150.00increasedserum
Vitamin D decreasedserum
Cholesterol decreasedserum
Literature
Hoffmann GFOrganic acid analysisin Blau N, Duran M, Blaskovics E (eds): in Physicians guuide to the laboratory diagnosis of metabolic diseases Chapman and Hall, London0031-491996
Slocum RHCummings, J.G.Amino Acid Analysis of Physiological SamplesTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York0087-1251991
Hoffmann GFOrganic acid analysisin Blau N, Duran M, Blaskovics E (eds): in Physicians guuide to the laboratory diagnosis of metabolic diseases Chapman and Hall, London0031-491996
Slocum RHCummings, J.G.Amino Acid Analysis of Physiological SamplesTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York0087-1251991
Shafqat N,et al.A structural mapping of mutations causing succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiencyJ Inherit Metab Dis366983-9872013
Hoffmann GFOrganic acid analysisin Blau N, Duran M, Blaskovics E (eds): in Physicians guuide to the laboratory diagnosis of metabolic diseases Chapman and Hall, London0031-491996
Fukao T,et al.Clinical and molecular characterization of five patients with succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiencyBiochim Biophys Acta18125619-6242011
Slocum RHCummings, J.G.Amino Acid Analysis of Physiological SamplesTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York0087-1251991