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J Pediatr. 2010 Mar;156(3):427-32. doi: 10.1016/j.jpeds.2009.09.054. Epub 2009 Nov 14.

Newborn population screening for classic homocystinuria by determination of total homocysteine from Guthrie cards.

Author information

1
Department of Pediatrics, Ruprecht-Karls-University, Heidelberg, Germany.

Abstract

OBJECTIVE:

To allow early recognition of cystathionine beta-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 micromol/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 beta-synthase deficiency, reaching a sensitivity of up to 100%, even if samples are taken within the first 3 days of life.

PMID:
19914636
DOI:
10.1016/j.jpeds.2009.09.054
[Indexed for MEDLINE]

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