Visit Metagene.de!
Summary
HYPERCHOLESTEROLEMIA, FAMILIAL
HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT HYPERLIPOPROTEINEMIA, TYPE IIA LDL RECEPTOR DISORDER
143890
OMIM = Online Medalian Inheritance of Men
391665
1q23.3, 3p21.1, 5p13-p12, 7p14.3, 8p21.2-p22, 9q31.1, 19p13.2
  • cholestyramine
  • dietary intervention (all family members)
  • LDL-apheresis
  • liver transplantation
  • statins
rare
autosomal dominant
disorder of low-density lipoprotein cholesterol (LDL-C)
symptoms
arthritis
atherosclerosis
corneal arcus
corneal deposits
coronary heart disease
heart failure
hypertension
tendinitis
xanthoma
laboratory finding
Cholesterol600.001200.003.608.00mg/dlplasma
Low-density lipoprotein (LDL)500.00800.0085.00135.00mg/dlplasma
HDL cholesterol decreasedserum
Literature
Sato T,et al.Clinical manifestations and enzymatic activities of mitochondrial respiratory chain complexes in Pearson marrow-pancreas syndrome with 3-methylglutaconic aciduria: a case report and literature reviewEur J Pediatr174121593-16022015
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Hamvas Aet al.Surfactant protein B deficiency: antenatal diagnosis and prospective treatment with surfactant replacementJ Pediatr1250356-3611994
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
Hamvas Aet al.Pathophysiology and treatment of surfactant protein-B deficiencyBiol Neonate (Suppl1)67018-311995
Korst RJet al.In vitro and in vivo transfer and expression of human surfactant SP-A- and SP-B-associated protein cDNAs by replication-deficient, recombinant adenoviral vectorsHum Gene Ther60277-2871995
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
Dumic K,et al.Two Novel CYP11B1 Gene Mutations in Patients from Two Croatian Families with 11+ƒ-Hydroxylase DeficiencyInt J Endocrinol201401859742014
Hamvas Aet al.Lung transplantation for treatment of infants with surfactant protein B deficiencyJ Pediatr1300231-2391997
Sela BAet al.Alpha-amino adipic aciduria: a rare psychomotor syndromeHarefuah13710451-4531999
Item CB,et al.Manifestation of hawkinsinuria in a patient compound heterozygous for hawkinsinuria and tyrosinemia IIIMol Genet Metab914379-3832007