Achalasia-Addisonianism-Alacrima (AAA) syndrome, also known as triple-A syndrome, is a rare autosomal recessive disorder characterized by alacrima, achalasia, adrenal insufficiency and autonomic instability caused by mutation in the AAAS gene on 12q13. Recently, it has been reported that mutations in GMPPA cause alacrima, achalasia, and mental retardation syndrome (AAMR), that shows similarity to the triple A syndrome.
Koehler K, Malik M, Mahmood S, Giesselmann S, Beetz C, Hennings JC, Huebner AK, Grahn A, Reunert J, Nurnberg G, Thiele H, Altmuller J, Nurnberg P, Mumtaz R, Babovic-Vuksanovic D, Basel-Vanagaite L, Borck G, Bramswig J, Muhlenberg R, Sarda P, Sikiric A, Anyane-Yeboa K, Zeharia A, Ahmad A, Coubes C, Wada Y, Marquardt T, Vanderschaeghe D, Van Schaftingen E, Kurth I, Huebner A, Hubner CA
タイトル
Mutations in GMPPA cause a glycosylation disorder characterized by intellectual disability and autonomic dysfunction.
