Changing incidence of neonatal hypermethioninaemia: implications for the detection of homocystinuria. Issue 8 (August 1979)

• Record Type: Journal Article
• Authors: Whiteman, P D; Clayton, B E; Ersser, R S; Lilly, P; Seakins, J W
• Is Part Of: Archives of disease in childhood. Volume 54:Issue 8(1979)
• Page Start: 593
• Page End: 598
• Publication Date: 1979-08
• Subjects: Children -- Diseases -- Periodicals; Infants -- Diseases -- Periodicals; 618.920005
• DOI: 10.1136/adc.54.8.593
• Languages: English
• ISSNs: 0003-9888

Abstract

Abstract : The Guthrie test was used to measure blood methionine concentrations in 670 764 neonates during the period from May 1970 to December 1977. Raised values (greater than 4 mg/100 ml; 268 mumol/l) were found in 147 babies (6--14 days old) and 55 of these still had raised values when retested 2--6 weeks later. 48 infants had transient hypermethioninaemia of at least 3 weeks' duration, one had a more persistent form associated with abnormal liver function tests, 3 had different forms of homocystinuria, and one infant, who was asymptomatic at the time of detection, had hypermethioninaemia associated with a rapidly fatal form of tyrosinamiea (tyrosinosis). Two infants could not be followed up. Transient hypermethioninaemia has not been detected in this laboratory since 1975. There was a greatly reduced incidence of transient hypermethioninaemia in girls after 1972 and in boys after 1975; this may have been due to recent changes in infant practices in the UK. Homocystinuria was last detected in this laboratory in 1972; the apparent change in incidence is significant (P less than 0.05) and suggests that the diagnostic value of this screening procedure should be reassessed.