Inborn Errors of Metabolism in Dogs: Historical, Metabolic, Genetic, and Clinical Aspects

Inborn errors of metabolism are genetic disorders caused by a block in a metabolic pathway, affecting both humans and animals. Individually, they are rare diseases, but as a group they are relatively common. As most of them have recessive inheritance, a new case may seem like just a sporadic case. The high degree of inbreeding in dog breeds increases the frequency of heterozygotes in populations, maintaining mutations (variants) in healthy individuals and, consequently, increasing the risk of disease recurrence (homozygotes). General practitioners' familiarization with this subject is a significant factor in identifying new cases, contrib-uting to increased knowledge about inborn errors of metabolism and their control. To help general practi-tioners, we use a clinical genetics approach covering key genetic, metabolic, diagnostic, and therapeutic aspects, offering an overview that integrates knowledge about these diseases in dogs and humans.(c) 2022 Published by Elsevier Inc.

Automated summary

Inborn errors of metabolism are genetic disorders caused by a block in a metabolic pathway, affecting both humans and animals. They are individually rare diseases but relatively common as a group. Inbreeding in dog breeds increases the risk of disease recurrence due to the higher frequency of heterozygotes. Familiarity with this subject among general practitioners is significant in identifying new cases and increasing knowledge about inborn errors of metabolism.