The GRACILE syndrome is associated with a mutation in the BCS1L gene.
Phenotype of the GRACILE syndrome:
(1) GR for growth retardation, with a low birth weight
(2) A for aminoaciduria
(3) C for cholestasis
(4) I for iron overload, with hepatic hemosiderosis
(5) L for lactic acidosis, with reduced arterial pH
(6) E for early death from multisystem organ failure, often during infancy
Inheritance: autosomal recessive
Racial association: Finn
Chromosome location: 2q33-37
Gene product: a mitochondrial inner-membrane protein that is a member of the AAA family of ATPases. It acts as a chaperone protein in the assembly of mitochondrial respiratory chain complex III
Patients have a homozygous point mutation at 232A to G.
The patients have markedly reduced activity in respiratory chain enzyme activity.
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