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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,
Jazyk angličtina Země Spojené státy americké
Typ dokumentu časopisecké články, práce podpořená grantem
Grantová podpora
NT12166
MZ0
CEP - Centrální evidence projektů
- MeSH
- adenosylhomocysteinasa nedostatek genetika MeSH
- diferenciální diagnóza MeSH
- erytrocyty enzymologie patologie MeSH
- fibroblasty enzymologie patologie MeSH
- fosfotransferasy (fosfomutasy) nedostatek MeSH
- heterozygot MeSH
- homocystein krev MeSH
- lidé MeSH
- methionin krev MeSH
- mutace * MeSH
- novorozenec MeSH
- vrozené poruchy glykosylace diagnóza MeSH
- Check Tag
- lidé MeSH
- novorozenec MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem 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.
Citace poskytuje 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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