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Related Experiment Videos

Screening for tyrosinaemia type I

A C Hutchesson1, S K Hall, M A Preece

  • 1Department of Clinical Chemistry, Children's Hospital, Birmingham, UK.

Archives of Disease in Childhood. Fetal and Neonatal Edition
|May 1, 1996
PubMed
Summary
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Tyrosinaemia type I is more common in Asians in the West Midlands. Neonatal screening for phenylketonuria (PKU) using amino acid chromatography can aid in detecting this rare genetic disorder.

Area of Science:

  • Biochemistry
  • Genetics
  • Paediatrics

Background:

  • Tyrosinaemia type I is a rare inherited metabolic disorder.
  • Neonatal screening programs, such as for phenylketonuria (PKU), are crucial for early detection of metabolic diseases.
  • The West Midlands Region has a diverse population, necessitating an understanding of disease incidence across ethnic groups.

Purpose of the Study:

  • To determine the incidence of tyrosinaemia type I in the West Midlands.
  • To evaluate the effectiveness of current neonatal screening programs for phenylketonuria (PKU) in detecting tyrosinaemia type I.
  • To investigate ethnic variations in tyrosinaemia type I incidence.

Main Methods:

  • A retrospective study analyzed data from PKU neonatal screening programs in Birmingham and the wider West Midlands between January 1985 and March 1994.

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  • Plasma amino acid chromatography (Birmingham) and the Guthrie microbiological assay (West Midlands) were used for screening.
  • Patients with tyrosinaemia I were identified from a regional inherited metabolic disease database.

    • Main Results:

    • The incidence of tyrosinaemia I was 1 in 20,791 live births in Birmingham and 1 in 105,037 outside.
    • Of 12 patients identified, 10 were of non-oriental Asian ethnicity, indicating a significantly higher incidence in this group (3.7/10^6 population).
    • Amino acid chromatography detected elevated tyrosine in neonates, with some cases later confirmed as tyrosinaemia I, suggesting its potential role in diagnosis.

    Conclusions:

    • The West Midlands region exhibits a high incidence of tyrosinaemia I among individuals of Asian ethnicity.
    • Neonatal screening for PKU utilizing amino acid chromatography demonstrates potential for contributing to the diagnosis and timely treatment of tyrosinaemia I.
    • Further research into targeted screening strategies for high-risk ethnic groups may be warranted.