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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 mmol/lserum
Protein0.000.00 mmol/mol creatinineurine
HDL cholesterol decreasedplasma
Triglycerides mg/dlplasma
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