HyperCKemia: an early sign of childhood-onset neutral lipid storage disease with myopathy

Neutral lipid storage disorders (NLSDs) are a group of autosomal recessive disorders in which triglycerides are abnormally deposited in various tissues owing to impaired triglyceride hydrolysis [1]. NLSDs are classified according to their clinical manifestations and causative genes into NLSDs with ichthyosis (NLSDI or Chanarin –Dorfman syndrome) and NLSDs with myopathy (NLSDM). NLSDI is caused by mutations in the comparative gene identification-58 (CGI-58, also known as ABHD5) gene and is characterized by ichthyosis, liver damage, hearing loss, ophthalmologic symptoms, and central nervous system involvement.

Source: Neuromuscular Disorders - July 30, 2023 Category: Neurology Authors: Xiaona Fu, Xinying Yang, Xiaofei Wang, Bingbing Jia, Wenna Ma, Hui Xiong, Fang Fang, Xiaotun Ren, Junlan Lv Tags: Research paper Source Type: research