Analbuminaemia

Analbuminaemia or analbuminemia is a rare genetically inherited metabolic defect characterised by an impaired synthesis of serum albumin.[1] Although albumin is the most common serum protein, analbuminaemia is a benign condition.

Analbuminaemia
Other namesCongenital analbuminemia
This condition is inherited in an autosomal recessive manner
Symptomsmild oedema, reduced blood pressure, fatigue.
Usual onsetAdulthood
CausesGenetic
FrequencyApproximately one per million

Signs and symptoms

Analbuminaemia often presents in adulthood, with benign clinical features, such as mild oedema, low blood pressure and fatigue. Some patients may develop more serious symptoms such as lower body lipodystrophy. Severe hypercholesterolemia with increased serum low-density lipoprotein-cholesterol concentration and increased esterified cholesterol are often observed. Free fatty acids and raised apolipoprotein B may occur as well as increased serum high-density lipoprotein-3 and apolipoprotein A-I and A-II levels.[2]

References

  1. Watkins S, Madison J, Galliano M, Minchiotti L, Putnam FW (1994). "Analbuminemia: three cases resulting from different point mutations in the albumin gene". Proc. Natl. Acad. Sci. U.S.A. 91 (20): 9417–21. Bibcode:1994PNAS...91.9417W. doi:10.1073/pnas.91.20.9417. PMC 44823. PMID 7937781.
  2. Crook, M (19 July 2016). "Analbuminaemia: clinical features and associated hypercholesterolaemia". Annals of Clinical Biochemistry. 53 (5): 525–526. doi:10.1177/0004563216657841. Retrieved 16 July 2023.


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