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GRACILE syndrome
Growth Retardation, Aminoaciduria, Cholestasis, Iron overload, Lactic acidosis, & Early death
Genetics:
- recessively inherited
- caused by mutation in the BCS1L gene
- phenotype differs from tubulopathy, encephalopathy, & liver failure due to mitochondrial complex III deficiency
Clinical manifestations:
- fetal growth retardation
- cholestasis
Laboratory:
- lactate in plasma: lactic acidosis
- amino acids in urine: aminoaciduria
- serum iron: excessive high
Complications:
- lethal disease
General
syndrome
inborn error of metabolism
Database Correlations
OMIM 603358
References
OMIM :accession 603358