Inherited metabolic disease in companion animals: Searching for nature’s mistakes

Abstract

Inborn errors of metabolism are caused by genetic defects in intermediary metabolic pathways. Although long considered to be the domain of human paediatric medicine, they are also recognised with increasing frequency in companion animals. The diagnosis of diseased animals can be achieved by searching for abnormal metabolites in body fluids, although such screening programmes have, until now, not been widely available to the small animal clinician. A comprehensive battery of analytical tools exists for screening for inborn metabolic diseases in humans which can be applied to animals and serve not only for the diagnosis of affected patients but also to detect asymptomatic carriers and further our understanding of metabolic pathways in dogs and cats. Moreover, naturally occurring animal models of inherited metabolic diseases provide a unique opportunity to study the biochemical and molecular pathogenesis of these disorders and to investigate possible therapeutic options.

Pharmacogenetic and Metabolic Differences Between Dog Breeds: Their Impact on Canine Medicine and the Use of the Dog as a Preclinical Animal Model

“…For example, the tendency towards specific metabolic diseases appears to follow breed lines. However, unlike humans where inborn errors of metabolism are generally attributable to many different mutations in a particular gene, in dogs (and cats), the same mutation is generally responsible for the specific disease within a particular breed (27). While only 5% to 10% of human genetic variation has been shown to be associated with populations or races, 27% of genetic variation in dogs is associated with differences in breed (7).…”

Identification of Bangladeshi Domestic Cats with GM1 Gangliosidosis Caused by the c.1448G>C Mutation of the Feline <i>GLB1</i> Gene: Case Study

“…Deficiency of this enzyme leads to the storage of massive amounts of GM1 ganglioside and related glycoconjugates in tissues, particularly in the central nervous system, resulting in progressive neurodegeneration and premature death. In domestic animals, naturally occurring GM1 gangliosidosis has been reported in cats, dogs, calves and sheep [13,14].…”

Acidúria L2-hidroxiglutárica: circulação do gene em cães da raça Staffordshire Bull Terrier no Brasil em 2008-2015

“…A determinação do pedigree e a ocorrência de animais afetados dentro do pedigree fornece informação valiosa sobre o modo de herança de algumas doenças (Sewell et al 2007), porém no Brasil ainda não é obrigatório a realização de testes de saúde para registro de pedigree. Os cães utilizados nesse trabalho são provenientes de criadores que tiveram interesse em realizar os testes e por esse motivo, acredita-se que os mesmos façam um controle nos acasalamentos, no entanto com a popularização da raça e o percentual de 27,63% de portadores do gene, pode-se esperar um crescimento no número de cães portadores do gene e o aparecimento de cães afetados.…”