Pyruvate dehydrogenase (PDH) deficiency is a major cause of neurological dysfunction and lactic acidosis in infancy and early childhood. The great majority of cases (>80%) result from mutations in the X-linked gene for the E1alpha subunit of the…
This article discusses the need for person-specific planning for the increasing numbers of disabled children with life-limiting and life-threatening conditions. It describes the system developed in Nottingham for this client group to have a…
