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Summary
HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, TYPE B
APOLIPOPROTEIN B-100, FAMILIAL LIGAND-DEFECTIVE
144010
OMIM = Online Medalian Inheritance of Men
2p24.1
autosomal dominant
Mutations in the apolipoprotein B-100 gene (APOB) can result in a phenotype that is clinically indistinguishable from familial hypercholesterolemia [Austin MA et al. 2004]
symptoms
corneal arcus
coronary heart disease
xanthoma
laboratory finding
Cholesterol 3.105.20increasedserum
Low-density lipoprotein (LDL) increasedserum
Literature
Crippa BL,et al.Biochemical abnormalities in Pearson syndromeAm J Med Genet A1673621-6282015
Meissner TBrune W, Mayatepek EPersistent hyperinsulinaemic hypoglycemia of infancy: therapy, clinical outcome and mutational analysisEur J Pediatr1560754-7571997
van den Berghe GDisorders of purine and pyrimidine metabolismin Fernandes J, Saudubray JM, Tada K (eds): Inborn metabolic diseases, diagnosis and treatment Berlin, Springer Verlag00455-4741990
Poege APet al.Early clinical manifestation of glutaric aciduria type I and nephrotic syndrome during the first months of lifeActa Paediatr8601144-11471997
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994