| Prenatal diagnosis of non-ketotic hyperglycinaemia. | |
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MedLine Citation:
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PMID: 1434509 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Non-ketotic hyperglycinaemia (NKH) is a devastating neurological disease for which there is no effective therapy. Consequently, most couples with a pregnancy known to be at risk for NKH request prenatal diagnosis. We have applied the combination of chorionic villus (CVS) assay for glycine cleavage enzyme activity and determination of amniotic fluid glycine concentration to increase the reliability of prenatal diagnosis for this disorder beyond that of each of these methods alone. All 15 of the at-risk pregnancies monitored had CVS glycine cleavage assay and five also had amniotic fluid glycine measurements. Two cases had no detectable cleavage activity in CVS and one gave uninterpretable enzyme results. Amniotic fluid glycine concentration was increased in all three and NKH was confirmed by abortus tissue assays for cleavage activity and amino acids. The remaining 12 case had activity in CVS (two also had normal amniotic fluid glycine levels) and delivered unaffected infants. Four of these 12 cases had cleavage activities below or at the low end of the normal range, perhaps indicating carrier status. We believe that the combination of CVS glycine cleavage assay and amniotic fluid glycine measurement is currently the best approach to the prenatal diagnosis of NKH. |
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Authors:
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J R Toone; D A Applegarth; H L Levy |
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Publication Detail:
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Type: Journal Article |
Journal Detail:
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Title: Journal of inherited metabolic disease Volume: 15 ISSN: 0141-8955 ISO Abbreviation: J. Inherit. Metab. Dis. Publication Date: 1992 |
Date Detail:
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Created Date: 1992-12-23 Completed Date: 1992-12-23 Revised Date: 2007-03-21 |
Medline Journal Info:
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Nlm Unique ID: 7910918 Medline TA: J Inherit Metab Dis Country: NETHERLANDS |
Other Details:
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Languages: eng Pagination: 713-9 Citation Subset: IM |
Affiliation:
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Department of Pathology, BC Children's Hospital, Vancouver, Canada. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Amino Acid Metabolism, Inborn Errors
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diagnosis* Aminomethyltransferase Amniotic Fluid / chemistry, metabolism Chorionic Villi / enzymology, metabolism Female Glycine / blood*, metabolism Humans Hydroxymethyl and Formyl Transferases* Pregnancy Pregnancy Outcome Prenatal Diagnosis* Serine / metabolism Transferases / analysis* |
| Chemical | |
Reg. No./Substance:
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56-40-6/Glycine; 56-45-1/Serine; EC 2.-/Transferases; EC 2.1.2.-/Hydroxymethyl and Formyl Transferases; EC 2.1.2.10/Aminomethyltransferase |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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