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Summary
LECITHIN:CHOLESTEROL ACYLTRANSFERASE DEFICIENCY
NORUM DISEASE, LCAT
245900
OMIM = Online Medalian Inheritance of Men
650
16q22.1
autosomal recessive - familial LCAT deficiency (FLD) - fish-eye disease (FED), milder phenotype mutation in the lecithin:cholesterol acyltransferase gene
symptoms
anemia
corneal clouding
corneal deposits
renal failure, acute/chronic
laboratory finding
Cholesterol increasedserum
Protein0.000.00 increasedurineno data
Literature
Chen CYet al.Continuous arteriovenous hemodiafiltration in the acute treatment of hyperammonaemia due to ornithine transcarbamylase deficiencyRen Fail220823-8362000
van den Berghe GVincent MFDisorders of purine and pyrimidine metabolismin Fernandes J, Saudubray JM, van den Berghe (eds): Inborn metabolic diseases, diagnosis and treatment Berlin, Springer Verlag00289-3021996
Poenaru LApproach to gene therapy of glycogenosis type II (Pompe disease)Mol Genet Metab700163-1692000
Duran Met al.Dihydropyrimidinuria: a new inborn error of pyrimidine metabolismJ Inherit Metab Dis140367-3701991
Jochum FLombeck IGenetic defects related to metals other than copperin Fernandes J, Saudubray JM, van den Berghe (eds): Inborn metabolic diseases, diagnosis and treatment Berlin, Springer Verlag00394-3982000
van den Berghe GVincent MFDisorders of purine and pyrimidine metabolismin Fernandes J, Saudubray JM, van den Berghe (eds): Inborn metabolic diseases, diagnosis and treatment Berlin, Springer Verlag00289-3021996