Complementation analysis in lymphoid cells from five patients with different forms of maple syrup urine disease

Identification of twelve novel mutations

Identification of twelve novel mutations in patients with classic and variant forms of maple syrup urine disease

✍ Marco Henneke; Nadine Flaschker; Christoph Helbling; Martina Müller; Peter Schad 📂 Article 📅 2003 🏛 John Wiley and Sons 🌐 English ⚖ 39 KB

Paalman Maple syrup urine disease (MSUD) is an autosomal recessive metabolic disorder of panethnic distribution caused by a deficiency of the activity of branched-chain α-ketoacid dehydrogenase (BCKD) complex. Mutations in the human BCKD genes E1 α (BCKDHA), E1 β (BCKDHB) and E2 (DBT) are known to r