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 urinar y 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 ac ids that occurs as a result of liver damage. Methods: Urinary bile aci ds were quantitatively analyzed by gas chromatography-mass spectrometr y in four Japanese patients with severe neonatal cholestasis associate d with hypertyrosinemia without urinary succinylacetone (i.e. tyrosine mia type I-like disease). These four patients represented sporadic cas es. Results: Large amounts of 3-oxo-Delta(4) bile acids were detected, which comprised greater than 80% of the total urinary bile acids. Sma ll amounts of allo-bile acids and primary bile acids were also detecte d, comprising less than 1% and 15% of the total urinary bile acids, re spectively. 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 secon dary 3-oxo-Delta(4)-steroid 5 beta-reductase deficiency, caused by idi opathic neonatal cholestatic liver failure.