Disorders of the Biosynthesis and Breakdown of Complex Molecules

Abstract

Disorders in the biosynthesis and breakdown of complex molecules typically show slowly progressive clinical symptoms often in several organ systems and are less likely to cause acute metabolic crises. They are not usually recognized by basic metabolic analyses but require specific investigations for their diagnosis. Disorders of purine and pyrimidine metabolism cause a range of nephrological, neurological, musculoskeletal, hematological, and other symptoms. Clinical features of lysosomal storage disorders include progressive neurological deterioration, dysmorphic features, and organomegaly. Peroxisomal disorders cause a wide range of neurological symptoms as well as hepatointestinal dysfunction, skeletal abnormalities, dysmorphic features, and others. Other relevant disease groups include disorders of the metabolism of isoprenoids and sterols, disorders of posttranslation protein modification, disorders of bile acid and bilirubin metabolism, and inherited cholestasis and porphyrias disorders of lipoprotein metabolism.