title: Clinical picture of S-adenosylhomocysteine hydrolase deficiency resembles phosphomannomutase 2 deficiency.
abstract: We report on the seventh known patient with S-adenosylhomocysteine hydrolase (SAHH) deficiency presenting at birth with features resembling phosphomannomutase 2 (PMM2-CDG Ia) deficiency. Plasma methionine and total homocysteine levels were normal at 2 months and increased only after the 8th month of age. SAHH deficiency was confirmed at 4.5 years of age by showing decreased SAHH activity (11% in both erythrocytes and fibroblasts), and compound heterozygosity for a known mutation c.145C>T (p.R49C) and a novel variant c.211G>A (p.G71S) in the AHCY gene. Retrospective analysis of clinical features revealed striking similarities between SAHH deficiency and the PMM2-CDG Ia.
authors.affiliation: First Faculty of Medicine, Institute of Inherited Metabolic Disorders, Charles University in Prague and General University Hospital in Prague, Czech Republic.
authors.forename: Tomáš
authors.initials: T
authors.lastname: Honzík
authors.forename: Martin
authors.initials: M
authors.lastname: Magner
authors.forename: Jakub
authors.initials: J
authors.lastname: Krijt
authors.forename: Jitka
authors.initials: J
authors.lastname: Sokolová
authors.forename: Oliver
authors.initials: O
authors.lastname: Vugrek
authors.forename: Robert
authors.initials: R
authors.lastname: Belužić
authors.forename: Ivo
authors.initials: I
authors.lastname: Barić
authors.forename: Hana
authors.initials: H
authors.lastname: Hansíkova
authors.forename: Milan
authors.initials: M
authors.lastname: Elleder
authors.forename: Kateřina
authors.initials: K
authors.lastname: Veselá
authors.forename: Lenka
authors.initials: L
authors.lastname: Bauerová
authors.forename: Nina
authors.initials: N
authors.lastname: Ondrušková
authors.forename: Pavel
authors.initials: P
authors.lastname: Ješina
authors.forename: Jiří
authors.initials: J
authors.lastname: Zeman
authors.forename: Viktor
authors.initials: V
authors.lastname: Kožich
mesh_terms: D043383:Adenosylhomocysteinase / Q000172:deficiency* / Q000235:genetics*; D018981:Congenital Disorders of Glycosylation / Q000175:diagnosis*; D003937:Diagnosis, Differential; D004912:Erythrocytes / Q000201:enzymology / Q000473:pathology; D005260:Female; D005347:Fibroblasts / Q000201:enzymology / Q000473:pathology; D006579:Heterozygote; D006710:Homocysteine / Q000097:blood; D006801:Humans; D007231:Infant, Newborn; D008715:Methionine / Q000097:blood; D009154:Mutation; D017875:Phosphotransferases (Phosphomutases) / Q000172:deficiency
chemical_list: D006710:Homocysteine; D008715:Methionine; D043383:Adenosylhomocysteinase; D017875:Phosphotransferases (Phosphomutases)