Toxic and Metabolic Disorders: Metabolic Diseases

Abstract

In metabolic diseases we normally differentiate between congenital and acquired diseases. Metabolic diseases in children are mostly congenital inborn errors of metabolism, whereas metabolic diseases in adults are usually acquired. Congenital metabolic disorders in children are a vast and highly specialist field and detailed knowledge of these belongs to the remit of tertiary referral or specialty centres. The syllabus will focus on the most common inborn errors of metabolism that can present or persist into adulthood, as well as on adult or acquired metabolic disorders. As a number of metabolic disorders are closely related to alcohol abuse or other toxic substances, the role of toxic effects from other substances, including therapeutic and recreational drugs, will be discussed in the second part of this section. Disorders of iron accumulation (Wilson’s disease and NBIA) have been previously discussed above under movement disorders but will be also reflected in the course.