GRACILE syndrome
| GRACILE syndrome | |
|---|---|
| Classification and external resources | |
| Specialty | Lua error in Module:Wikidata at line 446: attempt to index field 'wikibase' (a nil value). |
| OMIM | 603358 |
| Patient UK | GRACILE syndrome |
GRACILE syndrome is a very rare autosomal recessive genetic disorder, one of the Finnish heritage diseases. It is caused by mutation in BCS1L gene that occurs in 1 out of 1,500,000 live births.[1]
GRACILE is an acronym for growth retardation, amino aciduria (amino acids in the urine), cholestasis, iron overload, lactic acidosis, and early death. Other names for this syndrome include Finnish lethal neonatal metabolic syndrome (FLNMS); lactic acidosis, Finnish, with hepatic hemosiderosis; and Fellman syndrome.
References
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