| A screening method for biotinidase deficiency in newborns. | |
| | |
MedLine Citation:
|
PMID: 6690118 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
|
We describe a method for neonatal screening for biotinidase (EC 3.5.1.12) deficiency. Biotinidase activity is assessed colorimetrically from dried samples of whole blood spotted on the same filter papers as used in the neonatal screening for phenylketonuria. After the reaction, samples from normal infants are characteristically purple, whereas those from affected individuals are straw-colored. To confirm the deficiency, the enzyme is quantitatively assayed in additional blood spots or serum. A pilot study has been initiated with samples obtained by the Commonwealth of Virginia for phenylketonuria testing. |
| | |
Authors:
|
G S Heard; J R Secor McVoy; B Wolf |
Related Documents
:
|
15906728 - Congenital adrenal hyperplasia: should nationwide screening be implemented in thailand? 17234028 - Cost-effectiveness analysis of prenatal diagnosis intervention for down's syndrome in c... 11040718 - Prenatal sickle cell screening education effect on the follow-up rates of infants with ... 20079888 - Universal cervical length screening and treatment with vaginal progesterone to prevent ... 11949558 - Parathyroids: the forgotten glands. 6686478 - Non-organic failure to thrive: implications of placement through analysis of videotaped... |
Publication Detail:
|
Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S. |
Journal Detail:
|
Title: Clinical chemistry Volume: 30 ISSN: 0009-9147 ISO Abbreviation: Clin. Chem. Publication Date: 1984 Jan |
Date Detail:
|
Created Date: 1984-02-15 Completed Date: 1984-02-15 Revised Date: 2007-11-15 |
Medline Journal Info:
|
Nlm Unique ID: 9421549 Medline TA: Clin Chem Country: UNITED STATES |
Other Details:
|
Languages: eng Pagination: 125-7 Citation Subset: IM |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
Amidohydrolases
/
blood,
deficiency* Biotinidase Clinical Enzyme Tests* Colorimetry Humans Infant, Newborn Mass Screening / economics, methods* Metabolism, Inborn Errors / diagnosis* Pilot Projects Virginia |
| Grant Support | |
ID/Acronym/Agency:
|
AM 00677/AM/NIADDK NIH HHS; AM 25675/AM/NIADDK NIH HHS |
| Chemical | |
Reg. No./Substance:
|
EC 3.5.-/Amidohydrolases; EC 3.5.1.12/Biotinidase |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: An improved micro-scale liquid-chromatographic assay for piperacillin in plasma and urine.
Next Document: Liquid and lyophilized quality-control materials compared for use in continuous-flow analysis.