Dr Brian Gibberd (1931–2006): a pioneering clinician in Refsum's disease

Abstract

Branched-chain fatty acids are common components of the human diet (phytanic acid) or are produced endogenously (bile acids), and are also used as medicines (ibuprofen). Owing to their branched-chain structure, they are metabolized in peroxisomes. In the case of phytanic acid, the presence of a 3-methyl group prevents beta-oxidation, and instead it undergoes one round of alpha-oxidation to allow further metabolism. Defects in this process give rise to neurological diseases and cancer. Dr Brian F. Gibberd was one of the first U.K. physicians to recognize the importance of these peroxisomal metabolic pathways in clinical medicine, and pioneered their study. This obituary recognizes his many achievements in neurology and especially in the treatment of peroxisomal disorders. The following four papers from this mini-symposium entitled 'Advances in peroxisomal alpha-, beta- and omega-oxidation' describe work done in this area as part of a collaborative study in which Dr Gibberd played a key role. This work was presented as part of the Cardiovascular Bioscience focused topic at the Life Sciences 2007 conference, and this mini-symposium was dedicated to Dr Gibberd and his important contributions to this field.

The effectiveness of long-term dietary therapy in the treatment of adult Refsum disease

“…The importance of avoiding substantial weight loss or extended periods of fasting had been suspected clinically for many years 30 31. The kinetics of this response became clear when five patients fasted as part of a study of omega oxidation.…”

“…Dr Brian Gibberd established the Refsum disease clinic at Westminster Hospital, and he died suddenly in 2007 after completing the basic data analysis for this paper 31. Details of services for patients and clinicians about Refsum disease are available from http://www.Refsumdisease.org…”