Autozomálně recesivní
Caused by changes in both copies of the FLAD1 gene, which makes FAD synthase. FAD, made from vitamin B2 (riboflavin), is needed by several enzymes, so FLAD1 deficiency can resemble multiple acyl-CoA dehydrogenase deficiency.
Příznaky a projevy
Muscle weakness and exercise intolerance, with fat building up in muscle cells. Severity varies: in reported cases, onset ranged from early childhood to early adulthood.
Co se diagnózou změní
Riboflavin can improve symptoms in some people, especially those with milder forms. Monitoring of breathing and heart function, and avoiding prolonged fasting, are recommended. Genetic counselling is recommended, and carrier testing is available for relatives.
Analyzované geny
Známé také jako
LSMFLAD
