Linked Life Data

18396002

Source:http://linkedlifedata.com/resource/pubmed/id/18396002

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
9
pubmed:dateCreated
2008-8-26
pubmed:abstractText
Galactosialidosis is a rare lysosomal storage disease caused by a combined deficiency of lysosomal beta-galactosidase and neuraminidase, due to a primary defect in protective protein/cathepsin A. Three subtypes are recognized: the early infantile type, the late infantile type, and the juvenile/adult type. Here, we report a case of early infantile galactosialidosis in a female who was born at 31 weeks of gestation, after detection of fetal ascites at 21 weeks of gestation and development of fetal hydrops. After birth she received intensive treatment that led to improvement of edema and pleural effusion, but ascites slowly developed. She died of renal failure on day 207. An autopsy showed that all organs contained vacuolated cells, compatible with a storage disease. The patient had decreased activity of beta-galactosidase and undetectable neuraminidase activity in fibroblasts. A single A-G base transition at position 146 of exon 1 (Q49R) in protective protein/cathepsin A gene was found. The mutation has been reported previously in a Japanese patient with different phenotypes. However homozygous Q49R mutation detected in our case was severe prognosis.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Oct
pubmed:issn
0387-7604
pubmed:author
pubmed:issnType
Print
pubmed:volume
30
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
595-8
pubmed:dateRevised
2009-11-19
pubmed:meshHeading
pubmed:year
2008
pubmed:articleTitle
A case of galactosialidosis with a homozygous Q49R point mutation.
pubmed:affiliation
Kitakyushu Municipal Hospital, 2-1-1 Bashaku, Kokurakita-ku, Kitakyushu City, Fukuoka 802-0077, Japan. MLA02765@nifty.com
pubmed:publicationType
Journal Article, Case Reports