Inherited metabolic diseases (IEMs) are rare genetic disorders leading to a defective or abnormal enzyme function. The various causes leading to an IMD can be summed up as due to (i) partial or complete block in the downstream metabolic pathway, (ii) absence of a transport protein, or (iii) aberrant regulation of the metabolic enzyme.

This resource includes 254 IEMs that have been mapped onto the gene content of Recon 2. The diseases are grouped into 9 different types based on the metabolic sub-system: 1) carbohydrate disorders (68), 2) amino acid disorders (62), 3) lipid disorders (59), 4) transport disorders (20), 5) nucleotide disorders (17), 6) hormone disorders (8), 7) heme disorders (8), 8) vitamin disorders (7), and 9) others (5). Within Recon 2, 288 unique genes and 1872 unique reactions are associated with these IEMs. Additionally, 18 amino acids and 39 acylcarnitines from Recon 2 serve as established biomarkers for these disorders. The IEMs present a wide spectrum of phenotypes ranging from mile to severe end, affect single or multiple organ systems, and may be present at any age from infancy to adulthood (Saudubray, J. M. et al, Inborn Metabolic Diseases: Diagnosis and Treatment, 2012). Consequently, we compiled the clinical presentation, genotype-phenotype relationships, as well as the affected organ systems associated with these IEMs from multiple literature and database resources.

When using the disease information collected in VMH, please cite:

Sahoo et al. A compendium of inborn errors of metabolism mapped onto the human metabolic network. Mol. BioSyst., Issue 10, 2012 2012. doi:10.1039/C2MB25075F