Newborn screening for homocystinuria: Irish and world experience

Newborn screening for cystathionine beta-synthase deficiency (homocystinuria; HCU) was started in the late 1960s using a bacterial inhibition assay (BIA). At least seven countries have either national or regional screening programmes; 12 programmes are known to have discontinued. The worldwide incid...

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Bibliographic Details
Published in:European journal of pediatrics 1998-04, Vol.157 Suppl 2 (S2), p.S84-S87
Main Authors: Naughten, E R, Yap, S, Mayne, P D
Format: Article
Language:English
Subjects:
Amino acids
Breastfeeding & lactation
Chromatography
Cysts
Enzymes
Homocystinuria - blood
Homocystinuria - epidemiology
Homocystinuria - prevention & control
Humans
Incidence
Infant, Newborn
Ireland - epidemiology
Mass spectrometry
Medical screening
Methionine - blood
Mutation
Neonatal Screening
Newborn babies
Plasma
Proteins
Retrospective Studies
Scientific imaging
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Summary:Newborn screening for cystathionine beta-synthase deficiency (homocystinuria; HCU) was started in the late 1960s using a bacterial inhibition assay (BIA). At least seven countries have either national or regional screening programmes; 12 programmes are known to have discontinued. The worldwide incidence of HCU is approximately 1 in 335,000 but varies from 1:65,000 (Ireland) to 1:900,000 (Japan). Methodologies include the BIA, one-dimensional or thin-layer amino acid chromatography and, more recently, tandem mass spectrometry. The BIA diagnostic cut off concentration of blood methionine varies from 67 to 270 micromol/ (10-40 mg/l) with a median of 135 micromol/l (20 mg/l). In Ireland, 25 cases of HCU from 19 families have been identified from 1.58 million newborn infants since 1971; 21 cases were detected through the screening programme. Of the four missed cases, three were breast-fed at the time of blood collection and one was pyridoxine responsive. These findings were in broad agreement with the results from five other programmes, in which approximately one in every five cases was missed by the screening programme. Early hospital discharge, low protein intake, high blood methionine cut-off concentration and pyridoxine responsiveness were all identified as contributing to missed cases.
ISSN:0340-6199
1432-1076
DOI:10.1007/pl00014310