Very long-chain acyl-coenzyme A dehydrogenase deficiency (VLCAD deficiency) is a genetic disorder that affects the bodys ability to break down certain fats. In the β-oxidation cycle, VLCADs role involves the removal of two hydrogen atoms from the acyl-CoA molecule, forming a double bond and converting it into trans-2-enoyl-CoA. This crucial first step in the cycle is essential for the fatty acid to undergo further processing and energy production. When there is a deficiency in VLCAD, the body struggles to effectively break down long-chain fatty acids. This can lead to a buildup of these fats and a shortage of energy, particularly during periods of fasting or increased physical activity.
* Severe Early-Onset Cardiac and Multiorgan Failure Form: symptoms appear within days of birth and include hypertrophic/dilated cardiomyopathy, fluid around heart (pericardial effusion), heart rhythm problems (arrhythmias), hepatomegaly and occasional intermittent hypoglycemia
* Hepatic or Hypoketotic Hypoglycemic Form: typically appears in early childhood with hypoketotic hypoglycemia
* Later-Onset Episodic Myopathic Form: presents with muscle breakdown after exercise (intermittent rhabdomyolysis), muscle cramps and pain, exercise intolerance and low blood sugar
* Low-fat diet
* Use of medium-chain triglyceride (MCT) supplements
* Regular, frequent feeding, especially for infants and children
* Snacks high in complex carbohydrates before bedtime
* Guided and limited exercise for older individuals
* Administration of high-energy fluids intravenously
* Avoiding L-carnitine and IV fats
* Plenty of fluids and urine alkalization for muscle breakdown