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Summary
LECITHIN:CHOLESTEROL ACYLTRANSFERASE DEFICIENCY
NORUM DISEASE, LCAT
245900
OMIM = Online Medalian Inheritance of Men
650
16q22.1
rare
autosomal recessive
mutation in the lecithin:cholesterol acyltransferase gene
- familial LCAT deficiency (FLD)
- fish-eye disease (FED), partial LCAT deficiency, milder phenotype
symptoms
anemia
corneal clouding
corneal deposits
onset, adolescent
onset, childhood
onset, infancy
proteinuria
renal failure, acute/chronic
laboratory finding
Cholesterol increasedserum
Protein0.000.00 increasedurineno data
HDL cholesterol decreasedplasma
Triglycerides increasedplasma
Literature
Chen CYet al.Continuous arteriovenous hemodiafiltration in the acute treatment of hyperammonaemia due to ornithine transcarbamylase deficiencyRen Fail220823-8362000
Dejkhamron P,et al.Isolated methylmalonic acidemia with unusual presentation mimicking diabetic ketoacidosisJ Pediatr Endocrinol Metab293373-3782016
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 F,Lombeck 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
Imtiaz F,et al.Spectrum of Mutations in 60 Saudi Patients with Mut Methylmalonic AcidemiaJIMD Rep29039-462015
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
Spada M,et al.Liver transplantation in severe methylmalonic acidemia: The sooner, the betterJ Pediatr167511732015