According to the classical definition, inherited metabolic diseases (IMD) are caused by the functional defect of an enzyme, of genetic origin, blocking a specific metabolic pathway. These diseases can be produced in various ways: by accumulation of the toxic substrate proximal to the block; or metabolic, due to a deficiency of the product distal to the block; or by a deviation of the substrate towards an alternative pathway.1

Individually, IMD are considered rare, with an incidence of less than 1/100,000 births. However, when studied globally, their incidence may be much greater, between 1/800 and 1/2,500 births.2,3

IMD are multisystem diseases that maybe acute, as occurs in childhood, or progressive, more typical of adulthood.1

IMD usually present an autosomal recessive (AR) genotypic pattern, but cases have also been described with autosomal dominant (AD) patterns, linked to the X chromosome, and more rarely still, related to mitochondrial inheritance.

The aim of this review is to describe the clinical characteristics of IMD that can cause heart disease, as a consideration to be borne in mind when heart disease has no apparent aetiology.