Research progress of phytosterolemia and its laboratory diagnosis / 中华检验医学杂志
Chinese Journal of Laboratory Medicine
;
(12): 1082-1085, 2021.
Article
in Chinese
| WPRIM
| ID: wpr-912521
ABSTRACT
Phytosterolemia is a rare, severe autosomal recessive sterol storage disorder caused by homozygous or compound heterozygous mutations in one of the ABCG5 and/or ABCG8 adenosine triphosphate binding cassette (ABC) genes. The most prominent features of phytosterolemia are the significantly increased serum content of plant sterols. Present review focused on the laboratory diagnosis of phytosterolemia, briefly described the metabolism of phytosterols, and introduced the latest research progress on phytosterolemia diagnosis, its relationship with ASCVD and laboratory diagnostic methods (including the detection of serum concentrations of phytosterols, ABCG5/G8 gene mutation). We hope this article could improve readers′ awareness and attention on this disease.
Full text:
Available
Index:
WPRIM (Western Pacific)
Type of study:
Diagnostic study
Language:
Chinese
Journal:
Chinese Journal of Laboratory Medicine
Year:
2021
Type:
Article
Similar
MEDLINE
...
LILACS
LIS