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.
Mitochondria (singular, mitochondrion) are organelles that carry out cellular respiration in nearly all eukaryotic cells, converting the chemical energy of foods such as sugar â¦ s to the chemical energy of a molecule called ATP (adenosine triphosphate).