Clinical features and genetic analysis of childhood sitosterolemia
- Resource Type
- Authors
- Yun-Qi Chao; Dan Huang; Chaochun Zou; Qiong Zhou
- Source
- Medicine. 98:e15013
- Subject
- Genetics
business.industry
General Medicine
Plasma levels
medicine.disease
Genetic analysis
03 medical and health sciences
0302 clinical medicine
030220 oncology & carcinogenesis
medicine
030212 general & internal medicine
business
Sitosterolemia
Dyslipidemia
Plant sterols
- Language
- ISSN
- 1536-5964
0025-7974
Rationale:Sitosterolemia is a rare autosomal recessive disorder of dyslipidemia due to mutations of genes ABCG5 and ABCG8, leading to highly elevated plasma levels of plant sterols and expanded body pools of cholesterol.Patient concerns:We present a 9-year-old and a 7-year-old Chinese boy wi