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Newborn screening for homocystinurias and methylation disorders: systematic review and proposed guidelines
M. Huemer, V. Kožich, P. Rinaldo, MR. Baumgartner, B. Merinero, E. Pasquini, A. Ribes, HJ. Blom,
Language English Country Netherlands
Document type Journal Article, Research Support, Non-U.S. Gov't, Review
E-resources NLK Online Full text
ProQuest Central from 1999-02-01 to 2018-11-30Medline Complete (EBSCOhost) from 2009-08-01 to 1 year ago
Health & Medicine (ProQuest) from 1999-02-01 to 2018-11-30
Links
PubMed
25762406
DOI
10.1007/s10545-015-9830-z
Knihovny.cz E-resources
- MeSH
- Acetylcarnitine blood MeSH
- Betaine therapeutic use MeSH
- Homocystinuria diagnosis MeSH
- Carnitine analogs & derivatives blood MeSH
- Methylmalonic Acid blood MeSH
- Humans MeSH
- Methionine blood MeSH
- Methylenetetrahydrofolate Reductase (NADPH2) deficiency drug effects MeSH
- Methylation MeSH
- Infant, Newborn MeSH
- Neonatal Screening * MeSH
- Practice Guidelines as Topic MeSH
- Check Tag
- Humans MeSH
- Infant, Newborn MeSH
- Publication type
- Journal Article MeSH
- Research Support, Non-U.S. Gov't MeSH
- Review MeSH
Newborn screening (NBS) is justified if early intervention is effective in a disorder generally not detected early in life on a clinical basis, and if sensitive and specific biochemical markers exist. Experience with NBS for homocystinurias and methylation disorders is limited. However, there is robust evidence for the success of early treatment with diet, betaine and/or pyridoxine for CBS deficiency and good evidence for the success of early betaine treatment in severe MTHFR deficiency. These conditions can be screened in dried blood spots by determining methionine (Met), methionine-to-phenylanine (Met/Phe) ratio, and total homocysteine (tHcy) as a second tier marker. Therefore, we recommend NBS for cystathionine beta-synthase and severe MTHFR deficiency. Weaker evidence is available for the disorders of intracellular cobalamin metabolism. Early treatment is clearly of advantage for patients with the late-onset cblC defect. In the early-onset type, survival and non-neurological symptoms improve but the effect on neurocognitive development is uncertain. The cblC defect can be screened by measuring propionylcarnitine, propionylcarnitine-to-acetylcarnitine ratio combined with the second tier markers methylmalonic acid and tHcy. For the cblE and cblG defects, evidence for the benefit of early treatment is weaker; and data on performance of Met, Met/Phe and tHcy even more limited. Individuals homozygous or compound heterozygous for MAT1A mutations may benefit from detection by NBS using Met, which on the other hand also detects asymptomatic heterozygotes. Clinical and laboratory data is insufficient to develop any recommendation on NBS for the cblD, cblF, cblJ defects, glycineN-methyltransferase-, S-adenosylhomocysteinehydrolase- and adenosine kinase deficiency.
Department Laboratory Medicine and Pathology Mayo Clinic Rochester MN USA
Division Inborn Errors of Metabolism Hospital Clinic CIBERER Barcelona Spain
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- $a Huemer, Martina $u Division of Metabolism and Children's Research Center, University Children's Hospital Zürich, Zürich, Switzerland. martina.huemer@lkhb.at. Radiz-Rare Disease Initiative Zürich, University Zürich, Zürich, Switzerland. martina.huemer@lkhb.at. Department of Pediatrics, Landeskrankenhaus Bregenz, Carl-Pedenz-Str. 2, 6900, Bregenz, Austria. martina.huemer@lkhb.at.
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