A Turkish BCS1L mutation causes GRACILE-like disorder
A full-term growth-restricted female newborn (1790 g), presented with lactic acidosis (12.5 mmol/L) after birth. She had renal tubulopathy, cholestasis and elevated serum ferritin concentration (2819 ng/ml). Two similarly affected sisters had died before 3 months of age. Mitochondrial disorder was suspected since the disease resembled the Finnish GRACILE syndrome, caused by a homozygous mutation (
