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: BCS1L

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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