Clinical picture of S-adenosylhomocysteine hydrolase deficiency resembles phosphomannomutase 2 deficiency.

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. Copyright © 2012 Elsevier Inc. All rights reserved.

Citation

Tomáš Honzík, Martin Magner, Jakub Krijt, Jitka Sokolová, Oliver Vugrek, Robert Belužić, Ivo Barić, Hana Hansíkova, Milan Elleder, Kateřina Veselá, Lenka Bauerová, Nina Ondrušková, Pavel Ješina, Jiří Zeman, Viktor Kožich. Clinical picture of S-adenosylhomocysteine hydrolase deficiency resembles phosphomannomutase 2 deficiency. Molecular genetics and metabolism. 2012 Nov;107(3):611-3

Mesh Tags

Substances

PMID: 22959829

search → result