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Pedigree Analysis of Nonclassical Cholesteryl Ester Storage Disease with Dominant Inheritance in a LIPA I378T Heterozygous Carrier.

Digestive diseases and sciences - 1 Jun 2024

Zhang Jian-Hui, Lin Ai-Ping, Zhang Li, Ruan Dan-Dan, Gao Mei-Zhu, Chen Qian, Yu Hong-Ping, Liao Li-Sheng, Lin Xin-Fu, Fang Zhu-Ting, Lin Fan, Lu Shi-Yun, Luo Jie-Wei, Zheng Xiao-Ling, Chen Meng-Shi

Abstract excerpt

BACKGROUND: Cholesterol ester storage disorder (CESD; OMIM: 278,000) was formerly assumed to be an autosomal recessive allelic genetic condition connected to diminished lysosomal acid lipase (LAL) activity due to LIPA gene abnormalities. CESD is characterized by abnormal liver function and lipid metabolism, and in severe cases, liver failure can occur leading to death. In this study, one Chinese nonclassical CESD...

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PMID: 38564148
DOI: 10.1007/s10620-024-08395-9

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