GRACILE syndrome--a severe neonatal mitochondrial disorder
Fellman, V.
Duodecim; Laaketieteellinen Aikakauskirja 128(15): 1560-1567
2012
ISSN/ISBN: 0012-7183 PMID: 22970607 Document Number: 662530
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.