Cobalamin deficiency is suspected to be hereditary in Chinese Shar-Pei dogs (Shar-Peis), and inherited causes of
cobalamin deficiency may affect the cellular processing of
cobalamin. In humans, a defect of the two main
cobalamin-dependent intracellular
enzymes (i.e.,
methionine synthase and
methylmalonyl-CoA mutase) may lead to
hyperhomocysteinemia and hypermethylmalonic acidemia. The aim of this retrospective study was to evaluate serum
homocysteine (HCY) and
methylmalonic acid (MMA) concentrations in
cobalamin-deficient Shar-Peis and dogs of six other breeds. Serum samples (n=297) from
cobalamin-deficient dogs (Shar-Peis, German Shepherd dogs, Labrador Retrievers, Yorkshire Terriers, Boxers, Cocker Spaniels, and Beagles) were analyzed for serum HCY and MMA concentrations. A Fisher's exact test was used to evaluate if
cobalamin deficiency in Shar-Peis is associated with
hyperhomocysteinemia. Serum HCY and MMA concentrations were higher in
cobalamin-deficient Shar-Peis compared to
cobalamin-deficient dogs of the six other breeds (P<0.0001).
Hyperhomocysteinemia was associated with
cobalamin deficiency in Shar-Peis (P=0.009). In addition, serum HCY and MMA concentrations did not differ between
cobalamin-deficient German Shepherd dogs with and without
exocrine pancreatic insufficiency (EPI), a potential cause of secondary
cobalamin deficiency. These findings suggest that the function of the two intracellular
cobalamin-dependent
enzymes is impaired in Shar-Peis with
cobalamin deficiency.