Clinical picture of S-adenosylhomocysteine hydrolase deficiency resembles phosphomannomutase 2 deficiency
Jazyk angličtina Země Spojené státy americké Médium print-electronic
Typ dokumentu časopisecké články, práce podpořená grantem
PubMed
22959829
DOI
10.1016/j.ymgme.2012.08.014
PII: S1096-7192(12)00314-9
Knihovny.cz E-zdroje
- 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
- Názvy látek
- adenosylhomocysteinasa MeSH
- fosfotransferasy (fosfomutasy) MeSH
- homocystein MeSH
- methionin 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
