Hencher HC Lee, Robert SY Lee, CK Lai, YP Yuen, TS Siu, Albert YW Chan, CW Lam

摘要

Hong Kong Med J 2010;16:219-22?| Number 3, June 2010 CASE REPORT A novel duplication at the putative DNA polymerase alpha arrest site and a founder mutation in Chinese in the IVD gene underlie isovaleric acidaemia Hencher HC Lee, Robert SY Lee, CK Lai, YP Yuen, TS Siu, Albert YW Chan, CW Lam Department of Pathology, Princess Margaret Hospital, Laichikok, Hong Kong Full paper in PDF Isovaleric acidaemia is a rare inherited organic acidaemia associated with a characteristic odour in affected patients. Fewer than 40 causative mutations have been reported to date. We report a case in a Hong Kong Chinese neonate who presented with respiratory distress and acute encephalopathy requiring aggressive resuscitation and treatment. Residual gross motor developmental delay was still observed at the age of 16 months. The child was subsequently found to harbour a known missense mutation (c.A1199G [p.Y371C]) and a novel 4-bp duplication (c.1148_1151dupGCTA [p.Y355X]) in the IVD gene. We suggest that the former is a founder mutation in the Chinese population and propose an explanation for the duplication event. Strategies that may achieve early diagnosis and prompt treatment include raising awareness of this condition, implementation of a tandem mass spectrometry neonatal screening programme, and local acquisition of appropriate medications for these metabolic diseases. Key words:?Founder effect; Gene duplication; Hong Kong; Isovaleryl-CoA dehydrogenase View this abstract indexed in MEDLINE: