Assertion: bile's number | /r/CapableOf | represent around 1% of all spg cases
Facets:
Source sentences:
text: a single case was reported in 1998 of a 10-week-old boy presenting with severe progressive cholestasis, hepatosplenomegaly, cirrhosis, and liver failure, serum ALT and AST were markedly elevated; recently several individuals suffering from autosomal recessive hereditary spastic paraplegia 5A (SPG5A) have been shown to harbor mutations in the CYP7B1 gene although the number of cases only represents around 1% of all SPG cases 3β-hydroxy-Δ5-C 27 -steroid oxidoreductase HSD3B7 most commonly reported defect in bile acid synthesis, heterogeneous clinical presentation that includes progressive jaundice, hepatomegaly, pruritis, malabsorption with resultant steatorrhea (fatty diarrhea), fat soluble vitamin deficiency, rickets Δ4-