Inborn errors of bile acid synthesis can produce life-threatening cholestatic liver disease (which usually presents in infancy) and progressive neurological disease presenting later in childhood or in adult life.he neurological presentation often includes signs of upper motor neurone damage (spastic paraparesis). The most useful screening test for many of these disorders is analysis of urinary cholanoids (bile acids and bile alcohols); this is usually now achieved by electrospray ionisation tandem mass spectrometry.
Lysosomes are important cell organelles in digesting various macromolecules like carbohydrates, proteins, fats, DNA, RNA and others. The breakdown of these molecules during various stages of development and metabolism is governed by the controlled release of these enzymes.ysosomes are important cell organelles in digesting various macromolecules like carbohydrates, proteins, fats, DNA, RNA and others. The breakdown of these molecules during various stages of development and metabolism is governed by the controlled release of these enzymes.
phagocytosis. The process of ingestion of solid substances (e.g. cells, bacteria, parts of necrosed tissue) by cells and transported to a site within the cell where it is broken down by lysosomal enzymes.