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GRACILE-oireyhtymä--vastasyntyneen vakava mitokondriotauti.

Fellman, Vineta LU orcid (2012) In Duodecim; lääketieteellinen aikakauskirja 128(15). p.1560-1567
Abstract

GRACILE syndrome belongs to the Finnish disease heritage, and is caused by a point mutation in the BCS1L-gene encoding a mitochondrial protein. This leads to dysfunction of the complex III in the respiratory chain. Significant fetal growth disturbance is the primary manifestation. Within the first day the newborn infant develops severe lactic acidosis. Hypoglycemia, elevated serum ferritin and conjugated bilirubin values and aminoaciduria imply mitochondrial liver disease and renal tubulopathy. In Finland, the diagnosis is based on the 232A>G mutation in the BCS1L-gene. No specific treatment is available. GRACILE syndrome leads to early death.

Please use this url to cite or link to this publication:
author
organization
alternative title
[GRACILE syndrome--a severe neonatal mitochondrial disorder].
publishing date
type
Contribution to journal
publication status
published
subject
in
Duodecim; lääketieteellinen aikakauskirja
volume
128
issue
15
pages
8 pages
publisher
Finnish Medical Society Duodecim
external identifiers
  • scopus:84867908668
  • pmid:22970607
ISSN
0012-7183
language
Finnish
LU publication?
yes
id
2639c9d5-db30-4e0c-b0be-214dade463de
alternative location
https://www.duodecimlehti.fi/api/pdf/duo10420
date added to LUP
2018-10-16 13:30:34
date last changed
2024-05-13 17:18:08
@article{2639c9d5-db30-4e0c-b0be-214dade463de,
  abstract     = {{<p>GRACILE syndrome belongs to the Finnish disease heritage, and is caused by a point mutation in the BCS1L-gene encoding a mitochondrial protein. This leads to dysfunction of the complex III in the respiratory chain. Significant fetal growth disturbance is the primary manifestation. Within the first day the newborn infant develops severe lactic acidosis. Hypoglycemia, elevated serum ferritin and conjugated bilirubin values and aminoaciduria imply mitochondrial liver disease and renal tubulopathy. In Finland, the diagnosis is based on the 232A&gt;G mutation in the BCS1L-gene. No specific treatment is available. GRACILE syndrome leads to early death.</p>}},
  author       = {{Fellman, Vineta}},
  issn         = {{0012-7183}},
  language     = {{fin}},
  number       = {{15}},
  pages        = {{1560--1567}},
  publisher    = {{Finnish Medical Society Duodecim}},
  series       = {{Duodecim; lääketieteellinen aikakauskirja}},
  title        = {{GRACILE-oireyhtymä--vastasyntyneen vakava mitokondriotauti.}},
  url          = {{https://www.duodecimlehti.fi/api/pdf/duo10420}},
  volume       = {{128}},
  year         = {{2012}},
}