Brown-Vialetto-Van Laere and Fazio Londe syndromes: defects of riboflavin transport with biochemical similarities to multiple acyl-CoA dehydrogenation defects (MADD)

Brown-Vialetto-Van Laere and Fazio Londe

Brown-Vialetto-Van Laere and Fazio Londe syndrome is associated with a riboflavin transporter defect mimicking mild MADD: a new inborn error of metabolism with potential treatment

✍ Annet M. Bosch; Nico G. G. M. Abeling; Lodewijk IJlst; Hennie Knoester; W. Ludo 📂 Article 📅 2010 🏛 Springer 🌐 English ⚖ 114 KB

We report on three patients (two siblings and one unrelated) presenting in infancy with progressive muscle weakness and paralysis of the diaphragm. Metabolic studies revealed a profile of plasma acylcarnitines and urine organic acids suggestive of a mild form of the multiple acyl-CoA dehydrogenation