| A comprehensive screening method for detecting organic acidurias and other metabolic diseases in acutely sick infants and children. | |
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MedLine Citation:
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PMID: 869495 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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A protocol is described for the comprehensive screening of acutely ill neonates and infants for inherited metabolic diseases, with particular reference to the organic acidurias. A group of simple initial tests provide positive pointers to metabolic disorders, leading to comprehensive screening tests for the aminoacidopathies and organic acidurias. Specimen chromatograms of urinary organic acids in the normal neonate, infant, and child, obtained using the methods described, are given and compared with that from the urine of a child with previously unreported 2-hydroxyglutaric aciduria. The place of the scheme in the management of inherited metabolic disease in the perinatal period and its relationship to other screening programmes are discussed. It is estimated that use of the protocol would allow the detection of about one-half of the known inborn errors of metabolism, including the aminoacidopathies, the organic acidurias, the hyperammonaemias, and several disorders of carbohydrate metabolism, many of which present acutely in the neonate and infant. |
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Authors:
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R A Chalmers; R W Watts; A M Lawson |
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Publication Detail:
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Type: Journal Article |
Journal Detail:
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Title: Annals of clinical biochemistry Volume: 14 ISSN: 0004-5632 ISO Abbreviation: Ann. Clin. Biochem. Publication Date: 1977 May |
Date Detail:
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Created Date: 1977-07-29 Completed Date: 1977-07-29 Revised Date: 2004-11-17 |
Medline Journal Info:
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Nlm Unique ID: 0324055 Medline TA: Ann Clin Biochem Country: ENGLAND |
Other Details:
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Languages: eng Pagination: 149-56 Citation Subset: IM |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Amino Acids
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urine* Amniocentesis Carboxylic Acids / urine* Chromatography Humans Infant Infant, Newborn Mass Screening Metabolism, Inborn Errors / diagnosis*, urine |
| Chemical | |
Reg. No./Substance:
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0/Amino Acids; 0/Carboxylic Acids |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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