GRACILE syndrome

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GRACILE syndrome
Synonyms Growth delay-aminoaciduria-cholestasis-iron overload-lactic acidosis-early death syndrome
Autosomal recessive - en.svg
This condition is inheritedvia autosomal recessive manner
Classification and external resources
ICD-10 E88.8
OMIM 603358
MeSH C537934
Orphanet 53693

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 at least 1 out of 47,000 live births in Finnish people.[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.

Cause[edit]

Diagnosis[edit]

Prognosis[edit]

One Finnish study which followed 25 cases from 18 families found that half the infants died within 3 days of birth and the other half died before 4 months of age.[1]

References[edit]

  1. ^ a b Visapää I, Fellman V, Vesa J, Dasvarma A, Hutton JL, Kumar V, Payne GS, Makarow M, Van Coster R, Taylor RW, Turnbull DM, Suomalainen A, Peltonen L (October 2002). "GRACILE syndrome, a lethal metabolic disorder with iron overload, is caused by a point mutation in BCS1L". Am. J. Hum. Genet. 71 (4): 863–76. PMC 378542Freely accessible. PMID 12215968. doi:10.1086/342773.