GRACILE syndrome
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(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