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 names | Congenital analbuminemia |
 | |
| This condition is inherited in an autosomal recessive manner | |
| Specialty | Endocrinology |
| Symptoms | mild oedema, reduced blood pressure, fatigue. |
| Usual onset | Adulthood |
| Causes | Genetic |
| Frequency | Approximately one per million |
Signs and symptoms
editAnalbuminaemia 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]
It was shown that these persons have a normal life expectancy without substantial impairments.[3]
References
edit- ^ 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.
- ^ Crook, M (19 July 2016). "Analbuminaemia: clinical features and associated hypercholesterolaemia". Annals of Clinical Biochemistry. 53 (5): 525–526. doi:10.1177/0004563216657841. PMID 27329215.
- ^ Foster BM, Abdollahi A, Henderson GC (2023). "Alterations in the Plasma Protein Expression Pattern in Congenital Analbuminemia-A Systematic Review". Biomolecules. 13 (3): 407. doi:10.3390/biom13030407. PMC 10046341. PMID 36979342.
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External links
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