Ultrastructural findings in maple syrup urine disease in Poll Hereford calves

Ultrastructural findings in the nervous systems of two Poll Hereford calves affected with maple syrup urine disease or branched chain ketoacid decarboxylase deficiency are described. The calves were affected within 2 days of birth with a severe generalised central nervous system (CNS) disorder characterised by dullness and weakness, progressing to recumbency and opisthotonus. The urine had an odour of burnt sugar. Analysis of plasma and cerebrospinal fluid demonstrated significantly elevated levels of the branched chain amino acids leucine, isoleucine and valine. Status spongiosus affecting mainly the white matter was recorded at microscopic examination of the CNS, with ultrastructural examination confirming the presence of intramyelinic vacuole formation, suggesting myelin oedema.