Abnormally low ratio of cholic acid to chenodeoxycholic acid due to a deficiency of 3-oxo-delta4-steroid 5beta-reductase.
Kimura
A
A
Nittono
H
H
Takei
H
H
Kurosawa
T
T
D001647:Bile Acids and Salts / Q000652:urine*; D002635:Chenodeoxycholic Acid / Q000652:urine*; D002779:Cholestasis / Q000652:urine; D002793:Cholic Acids / Q000172:deficiency* / Q000652:urine; D006801:Humans; D007003:Hypoglycemia / Q000652:urine; D007231:Infant, Newborn; D007234:Infant, Premature; D007235:Infant, Premature, Diseases / Q000652:urine*; D010088:Oxidoreductases / Q000172:deficiency*
D001647:Bile Acids and Salts; D002793:Cholic Acids; D002635:Chenodeoxycholic Acid; D010088:Oxidoreductases; C021936:3-oxo-5 beta-steroid delta 4-dehydrogenase