Determination of Autosomal Dominant or Recessive Methionine Adenosyltransferase I/III Deficiencies Based on Clinical and Molecular Studies

• Main Authors: Yoo-Mi Kim (Author), Ja Hye Kim (Author), Jin-Ho Choi (Author), Gu-Hwan Kim (Author), Jae-Min Kim (Author), Minji Kang (Author), In-Hee Choi (Author), Chong Kun Cheon (Author), Young Bae Sohn (Author), Marco Maccarana (Author), Han-Wook Yoo (Author), Beom Hee Lee (Author)
• Format: Book
• Published: BMC, 2016-02-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Methionine adenosyltransferase (MAT) I/III deficiency can be Inherited as autosomal dominant (AD) or as recessive (AR) traits in which mono- or biallelic MAT1A mutations have been identified, respectively. Although most patients have benign clinical outcomes, some with the AR form have neur...