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Clinical picture of S-adenosylhomocysteine hydrolase deficiency resembles phosphomannomutase 2 deficiency
T. Honzík, M. Magner, J. Krijt, J. Sokolová, O. Vugrek, R. Belužić, I. Barić, H. Hansíkova, M. Elleder, K. Veselá, L. Bauerová, N. Ondrušková, P. Ješina, J. Zeman, V. Kožich,
Language English Country United States
Document type Journal Article, Research Support, Non-U.S. Gov't
Grant support
NT12166
MZ0
CEP Register
- MeSH
- Adenosylhomocysteinase deficiency genetics MeSH
- Diagnosis, Differential MeSH
- Erythrocytes enzymology pathology MeSH
- Fibroblasts enzymology pathology MeSH
- Phosphotransferases (Phosphomutases) deficiency MeSH
- Heterozygote MeSH
- Homocysteine blood MeSH
- Humans MeSH
- Methionine blood MeSH
- Mutation * MeSH
- Infant, Newborn MeSH
- Congenital Disorders of Glycosylation diagnosis MeSH
- Check Tag
- Humans MeSH
- Infant, Newborn MeSH
- Female MeSH
- Publication type
- Journal Article MeSH
- Research Support, Non-U.S. Gov't MeSH
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.
References provided by Crossref.org
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- $a 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.
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