Linked Life Data

20519759

Source:http://linkedlifedata.com/resource/pubmed/id/20519759

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
3
pubmed:dateCreated
2010-6-3
pubmed:abstractText
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.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Jun
pubmed:issn
1024-2708
pubmed:author
pubmed:issnType
Print
pubmed:volume
16
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
219-22
pubmed:meshHeading
pubmed:year
2010
pubmed:articleTitle
A novel duplication at the putative DNA polymerase alpha arrest site and a founder mutation in Chinese in the IVD gene underlie isovaleric acidaemia.
pubmed:affiliation
Department of Pathology, Princess Margaret Hospital, Laichikok, Hong Kong.
pubmed:publicationType
Journal Article, Case Reports