Conditions / Genetic
GRACILE syndrome
info · Genetic
A mitochondrial disorder characterized by fetal growth restriction, aminoaciduria, cholestasis, iron overload, lactocidosis, and early death that has_material_basis_in homozygous or compound heterozygous mutation in the BCS1L gene on chromosome 2q35.
Signs and symptoms
- Aminoaciduria
- Cholestasis
- Increased circulating pyruvate concentration
- Elevated circulating iron concentration
- Chronic lactic acidosis
- Increased circulating ferritin concentration
- Intrauterine growth retardation
- Neonatal hypotonia
Also known as: FLNMS; Fellman disease; Finnish lactic acidosis with hepatic hemosiderosis; Finnish lethal neonatal metabolic syndrome; growth delay-aminoaciduria-cholestasis-iron overload-lactic acidosis-early death syndrome