[GRACILE syndrome--a severe neonatal mitochondrial disorder].

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.

• Authors: Vineta Fellman
• Journal: Duodecim; laaketieteellinen aikakauskirja (Duodecim) Vol. 128 Issue 15 Pg. 1560-7 ( 2012) ISSN: 0012-7183 [Print] Finland
• Vernacular Title: SGRACILE-oireyhtymä--vastasyntyneen vakava mitokondriotauti.
• PMID: 22970607 (Publication Type: Journal Article, Review)

Chemical References

• BCS1L protein, human
• Biomarkers
• ATPases Associated with Diverse Cellular Activities
• Electron Transport Complex III

Topics

• ATPases Associated with Diverse Cellular Activities
• Acidosis, Lactic (diagnosis, epidemiology, genetics)
• Biomarkers (blood)
• Cholestasis (diagnosis, epidemiology, genetics)
• Electron Transport Complex III (genetics)
• Fetal Growth Retardation (diagnosis, epidemiology, genetics)
• Finland (epidemiology)
• Hemosiderosis (diagnosis, epidemiology, genetics)
• Humans
• Infant, Newborn
• Metabolism, Inborn Errors (diagnosis, epidemiology, genetics)
• Mitochondrial Diseases (congenital)
• Point Mutation
• Renal Aminoacidurias (diagnosis, epidemiology, genetics)