Tyrosinemia type I-like disease: a possible manifestation of 3-oxo-delta 4-steroid 5 beta-reductase deficiency.
BACKGROUND
It has been suggested that quantitative analysis of urinary bile acids may help to distinguish primary 3-oxo-delta 4-steroid 5 beta-reductase deficiency from the excretion of 3-oxo-delta 4 bile acids that occurs as a result of liver damage.


METHODS
Urinary bile acids were quantitatively analyzed by gas chromatography-mass spectrometry in four Japanese patients with severe neonatal cholestasis associated with hypertyrosinemia without urinary succinylacetone (i.e. tyrosinemia type I-like disease). These four patients represented sporadic cases.


RESULTS
Large amounts of 3-oxo-delta 4 bile acids were detected, which comprised greater than 80% of the total urinary bile acids. Small amounts of allo-bile acids and primary bile acids were also detected, comprising less than 1% and 15% of the total urinary bile acids, respectively.


CONCLUSIONS
It was suspected that these four patients had a primary 3-oxo-delta 4-steroid 5 beta-reductase deficiency. However, it is possible that some patients in this study may have had a secondary 3-oxo-delta 4-steroid 5 beta-reductase deficiency, caused by idiopathic neonatal cholestatic liver failure.
Department of Pediatrics and Child Health, Kurume University School of Medicine, Fukuoka, Japan.
A
A
Kimura
F
F
Endo
S
S
Kagimoto
T
T
Inoue
M
M
Suzuki
T
T
Kurosawa
M
M
Tohma
T
T
Fujisawa
H
H
Kato
D000592:Amino Acid Metabolism, Inborn Errors / Q000175:diagnosis* / Q000652:urine; D001647:Bile Acids and Salts / Q000652:urine*; D002779:Cholestasis / Q000150:complications / Q000652:urine*; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D010088:Oxidoreductases / Q000172:deficiency*; D014443:Tyrosine / Q000097:blood* / Q000652:urine
D001647:Bile Acids and Salts; D014443:Tyrosine; D010088:Oxidoreductases