Newborn population screening for classic homocystinuria by determination of total homocysteine from guthrie cards
Objective - To allow early recognition of cystathionine β-synthase by newborn screening. - Study design - Total homocysteine was determined in dried blood spots with a novel, robust high-performance liquid chromatography method with tandem mass spectrometry. Quantification of homocysteine was linear...
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| Main Authors: | , , , , , , , , , , , , |
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| Format: | Article (Journal) |
| Language: | English |
| Published: |
March 2010
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| In: |
The journal of pediatrics
Year: 2010, Volume: 156, Issue: 3, Pages: 427-432 |
| ISSN: | 1097-6833 |
| DOI: | 10.1016/j.jpeds.2009.09.054 |
| Online Access: | Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1016/j.jpeds.2009.09.054 Verlag, lizenzpflichtig, Volltext: https://www.sciencedirect.com/science/article/pii/S002234760900969X 
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| Author Notes: | Hongying Gan-Schreier, PhD, Moustafa Kebbewar, Junmin Fang-Hoffmann, MD, Julia Wilrich, MD, Ghassan Abdoh, MD, Tawfeg Ben-Omran, MD, Noora Shahbek, MD, Abdulbari Bener, MD, Hilal Al Rifai, MD, Abdul Latif Al Khal, MD, Martin Lindner, MD, Johannes Zschocke, MD, PhD,and Georg F. Hoffmann, MD |
| Summary: | Objective - To allow early recognition of cystathionine β-synthase by newborn screening. - Study design - Total homocysteine was determined in dried blood spots with a novel, robust high-performance liquid chromatography method with tandem mass spectrometry. Quantification of homocysteine was linear over a working range up to 50 μmol/L. For mutation analysis, DNA was tested for 2 mutations common in Qatar. - Results - Both methods proved to be suitable for high throughput processing. In 2 years, 7 infants with classic homocystinuria were identified of 12 603 native Qatari infants, yielding an incidence of 1:1800. Molecular screening would have missed 1 patient homozygous for a mutation not previously identified in the Qatari population. Over a period of 3 years, a total of 14 cases of classic homocystinuria were detected by screening of homocysteine from all newborn infants born in Qatar (n = 46 406). Homocysteine was always elevated, whereas methionine was elevated in only 7 cases. - Conclusions - The study offers a reliable method for newborn screening for cystathionine β-synthase deficiency, reaching a sensitivity of up to 100%, even if samples are taken within the first 3 days of life. |
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| Item Description: | Online veröffentlicht am 14. November 2009 Gesehen am 31.07.2023 |
| Physical Description: | Online Resource |
| ISSN: | 1097-6833 |
| DOI: | 10.1016/j.jpeds.2009.09.054 |