Maple syrup urine disease in calves: a clinical, pathological and biochemical study

The clinical, pathological and biochemical findings of a study of 30 Poll Hereford, Hereford, Poll Hereford cross or Hereford cross calves affected with branched chain ketoacid dehydrogenase (BCKAD) complex deficiency or maple syrup urine disease (MSUD) are presented. In breeding studies, 6 of 21 calves from obligate heterozygote matings were affected with MSUD, suggesting the disease is inherited in an autosomal recessive manner. Calves were clinically affected from birth, but there were variations in the subsequent course of progressive deterioration of central nervous system function. Concentrations of the branched chain amino acids and keto acids were elevated in pre-suckle plasma and cerebellar water content was higher in affected calves. Activity of BCKAD complex was minimal in fibroblasts cultured from an affected calf. Spongiform encephalopathy and elevated ratios of the branched to straight chain amino acids in formalin fixed cerebral tissue were found in a stillborn foetus and a 3-month-old Hereford calf. These findings suggest the disease occurs prenatally and that a delayed form may exist.