GRACILE-oireyhtymä--vastasyntyneen vakava mitokondriotauti.
(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:
https://lup.lub.lu.se/record/2639c9d5-db30-4e0c-b0be-214dade463de
- author
- Fellman, Vineta LU
- organization
- alternative title
- [GRACILE syndrome--a severe neonatal mitochondrial disorder].
- publishing date
- 2012-10
- 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>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}}, }