GRACILE syndrome

[MIM 603 358]

(Fellman disease)

Acronym for Growth Restriction, Aminoaciduria, Cholestasis, Iron overload, Lactic acidosis and Early death .

Found predominantly in the Finnish population (incidence 1/47,000).

Mitochondrial cytopathy caused by the autosomal recessive transmission  of a mutation in the BCS1L gene (2q33-37)  that codes for factors of synthesis of complex III of the respiratory chain.

Clinical presentation:

-        important intrauterine growth retardation

-        lactic acidosis

-        renal tubular acidosis ' Fanconi type'

-        cholestasis that progresses to cirrhosis and steatosis in the patients who survive for a few months

-        iron overload limited to the liver (unlike in neonatal hemochromatosis)  with hypotransferrinemia

-        rapid death by liver failure

-        lactic acidosis

-        renal tubular acidosis ' Fanconi type'

-        cholestasis that progresses to cirrhosis and fatty liver in the patients who survive for a few months

-        iron overload limited to the liver (unlike the neonatal hemochromatosis)  with hypotransferrinemia

-        rapid death by liver failure


Anesthetic implications: 

check liver function, perfusion of a glucose solution from the very beginning of the fasting period. Blood glucose monitoring; avoid propofol in continuous infusion (increased risk for PRIS ?).

References : 

-         Fellman V. 
The GRACILE syndrome, a neonatal lethal metabolic disorder with iron overload.
Blood Cells, Molecules, and Diseases 2002; 29: 444-50.

-         Lee WS, Sokol RJ. 
Mitochondrial hepatopathies : advances in genetics, therapeutic approaches and outcomes. 
J Pediatr 2013; 163 :  942-8.


Updated: April 2019