title: Changing incidence of neonatal hypermethioninaemia: implications for the detection of homocystinuria.
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.
mesh_terms: D000592:Amino Acid Metabolism, Inborn Errors / Q000453:epidemiology*; D001903:Bottle Feeding; D004739:England; D005260:Female; D006712:Homocystinuria / Q000097:blood / Q000453:epidemiology*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008403:Mass Screening; D008715:Methionine / Q000097:blood*; D008894:Milk Proteins; D014443:Tyrosine / Q000097:blood
chemical_list: D008894:Milk Proteins; D014443:Tyrosine; D008715:Methionine