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Summary
TANGIER DISEASE TGD
TGD
205400
OMIM = Online Medalian Inheritance of Men
31150
9q31.1
rare
autosomal recessive
mutation in the ABCA1 gene
symptoms
blindness, visual loss, visual impairment
cataract
corneal clouding
corneal deposits
coronary heart disease
hepatomegaly (large liver)
peripheral neuropathy
splenomegaly (large spleen)
tonsils
laboratory finding
HDL cholesterol decreasedserum
Triglycerides normal/increasedserum
Apolipoprotein decreasedserum
Literature
Benson PFet al.HydroxylysinuriaArch Dis Child440134-1351969
Baerlocher KDisorders of copper and zinc metabolismPhysicians guide to the laboratory diagnosis of metabolic diseases Chapman & Hall, London00467-4811996
Cox RPet al.Familial hyperlysinemias--multiple enzyme deficiencies associated with the bifunctional aminoadipic semialdehyde synthaseTrans Am Clin Climatol Assoc97069-811985
D+Ârner KRoutine determination of copper and zinc in serum and urine for the determination of qualified reference values in childhoodJ Clin Chem Clin Biochem1807131980
Tada K,et al.Congenital tryptophanuria with dwarfism (H disease-like clinical features without indicanuria and generalized aminoaciduria): a probably new inborn error of tryptophane metabolismTohoku J Exp Med800118-1341963
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
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
Baerlocher KDisorders of copper and zinc metabolismPhysicians guide to the laboratory diagnosis of metabolic diseases Chapman & Hall, London00467-4811996
Balduyck M,et al.Diagnosis of alpha-1 antitrypsin deficiency: modalities, indications and diagnosis strategyRev Mal Respir318729-7452014
Accominotti Met al.Determination of zinc in blood serum by electrothermal atomic absorption with matrix modificationClin Chim Acta1790991988
Bejar RLet al.Cerebral gigantism: concentrations of amino acids in plasma and muscleJ Pediatr760105-1111970