Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Congenital analbuminemia is an autosomal recessive disorder caused by mutations of the ALB gene. The disorder manifests in adult who present with hypercholesterinemia and low albumin levels in electrophoresis.
Management is symptomatic hypercholesterinemia and progressve arteriosklerosis have to be treated properly. Also as some drugs bind to albumin their dosage has to be carefully monitored.
Hereditary disorders protein metabolism
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Aceruloplasminemia/Hypoceruloplasminemia
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Congenital analbuminemia
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ALB
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| 1. |
Murray JC et al. (1983) Molecular genetics of human serum albumin: restriction enzyme fragment length polymorphisms and analbuminemia. 
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| 2. |
BENNHOLD H et al. (1959) Comparative studies on the half-life of I 131-labeled albumins and nonradioactive human serum albumin in a case of analbuminemia.
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| 3. |
Lyon AW et al. (1998) Influence of methodology on the detection and diagnosis of congenital analbuminemia.
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| 4. |
None (1996) Bennhold's analbuminemia: a follow-up study of the first two cases (1953-1992).
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| 5. |
Watkins S et al. (1994) Analbuminemia: three cases resulting from different point mutations in the albumin gene.
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| 6. |
Dammacco F et al. (1980) Analbuminemia: report of a case and review of the literature.
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| 7. |
Esumi H et al. (1982) Presence of albumin mRNA precursors in nuclei of analbuminemic rat liver lacking cytoplasmic albumin mRNA.
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| 8. |
Esumi H et al. (1980) Absence of albumin mRNA in the liver of analbuminemic rats.
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| 9. |
Esumi H et al. (1983) A seven-base-pair deletion in an intron of the albumin gene of analbuminemic rats.
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| 10. |
Boman H et al. (1976) Analbuminemia in an American Indian girl.
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| 11. |
Mendel CM et al. (1989) Thyroxine transport and distribution in Nagase analbuminemic rats.
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| 12. |
Shalaby F et al. (1990) Exon skipping during splicing of albumin mRNA precursors in Nagase analbuminemic rats.
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| 13. |
Cormode EJ et al. (1975) Analbuminemia in a neonate.
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| 14. |
Nagase S et al. (1979) Albumin-deficient rat mutant.
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| 15. |
Caridi G et al. (2019) A novel insertion (c.1098dupT) in the albumin gene causes analbuminemia in a consanguineous family.
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| 16. |
Campagnoli M et al. (2002) A novel splicing mutation causes an undescribed type of analbuminemia.
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| 17. |
Ruffner DE et al. (1988) Splicing mutation in human hereditary analbuminemia.
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