CPTICPTIIhiányok
CPTICPTIIhiányok, often abbreviated as CPT-II deficiencies, refers to a group of rare genetic disorders affecting the lysosomal enzyme CPT-II. This enzyme plays a crucial role in the breakdown of long-chain fatty acids, a process essential for energy production within the body's cells. When CPT-II is deficient or non-functional, these fatty acids accumulate, particularly in muscle tissue.
The clinical manifestations of CPT-II deficiencies can vary significantly in severity, ranging from mild symptoms to
Diagnosis of CPT-II deficiency usually involves biochemical testing to measure enzyme activity in blood or tissue