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 life-threatening conditions. The most common form, the adult-onset myopathic form, typically presents with muscle weakness, pain, and fatigue, often triggered by prolonged exercise, fasting, or illness. Rhabdomyolysis, the breakdown of muscle tissue, can occur, leading to dark urine and potentially kidney damage. Less common forms include a severe infantile-onset form characterized by liver failure, hypoglycemia, and cardiomyopathy, and a moderate childhood-onset form with recurrent muscle problems.

Diagnosis of CPT-II deficiency usually involves biochemical testing to measure enzyme activity in blood or tissue samples, and genetic testing to identify mutations in the CPT2 gene. Treatment is primarily supportive and focuses on preventing or managing acute episodes. This includes avoiding prolonged fasting and strenuous exercise, maintaining adequate carbohydrate intake, and in cases of rhabdomyolysis, ensuring proper hydration and monitoring kidney function. There is currently no cure for CPT-II deficiency, but with appropriate management, individuals can often lead fulfilling lives.