Clinical picture of S-adenosylhomocysteine hydrolase deficiency resembles phosphomannomutase 2 deficiency
Language English Country United States Media print-electronic
Document type Journal Article, Research Support, Non-U.S. Gov't
PubMed
22959829
DOI
10.1016/j.ymgme.2012.08.014
PII: S1096-7192(12)00314-9
Knihovny.cz E-resources
- 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
- Names of Substances
- Adenosylhomocysteinase MeSH
- Phosphotransferases (Phosphomutases) MeSH
- Homocysteine MeSH
- Methionine 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.
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