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

Authors :: Honzík T
Magner M
Krijt J
Sokolová J
Vugrek O
Belužić R
Barić I
Hansíkova H
Elleder M
Veselá K
Bauerová L
Ondrušková N
Ješina P
Zeman J
Kožich V
Source :: Molecular genetics and metabolism [Mol Genet Metab] 2012 Nov; Vol. 107 (3), pp. 611-3. Date of Electronic Publication: 2012 Aug 23.
Publication Year :: 2012
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.<br /> (Copyright © 2012 Elsevier Inc. All rights reserved.)

Subjects :: Diagnosis, Differential
Erythrocytes enzymology
Erythrocytes pathology
Female
Fibroblasts enzymology
Fibroblasts pathology
Heterozygote
Homocysteine blood
Humans
Infant, Newborn
Methionine blood
Phosphotransferases (Phosphomutases) deficiency
Adenosylhomocysteinase deficiency
Adenosylhomocysteinase genetics
Congenital Disorders of Glycosylation diagnosis
Mutation

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