Screening for tyrosinaemia type I.

Abstract

Aims-To assess the incidence of tyrosinaemia type I in the West Midlands Region, and the value of current neonatal screening programmes for phenylketonuria (PKU) for its detection.

Outcome of children with hereditary tyrosinaemia following newborn screening

“…Highly accurate methods for the detection of SA, which is highly specific for HT1, exist and have been incorporated into universal NBS programmes in both high and low incidence areas and could be incorporated into UK NBS practice 19–21. The incidence of HT1 in the UK is approximately 1 in 100 000 live births, but is higher in some areas such as the West Midlands 22. Our data, and that of others, have shown that pre-emptive treatment is effective in preventing liver disease and will decrease the risk of HCC and prevents a small number of liver transplants annually.…”

A comparison of disease and gene frequencies of inborn errors of metabolism among different ethnic groups in the West Midlands, UK.

“…This permits both visual inspection of plasma for lipaemia, and detection of some other aminoacidopathies. 3 We assessed the incidence of autosomal recessive IEM among children born in the West Midlands in the decade preceding the 1991 National Census. The number of children screened during this period was obtained from Neonatal Screening Laboratory records, while their ethnicity as a percentage of the total was derived from Census data, using the number of children in each group resident in the region and aged under 10 years on the date of the Census (there is no documentation of paternal ethnicity and only voluntary documentation of maternal ethnicity at birth).…”

Early nitisinone treatment reduces the need for liver transplantation in children with tyrosinaemia type 1 and improves post‐transplant renal function

“…Tyrosinaemia type 1 (HT1) is a rare autosomal recessive disorder of tyrosine metabolism caused by a deficiency of the enzyme fumarylacetoacetate hydrolase (FAH) in the tyrosine catabolic pathway. The estimated incidence worldwide is approximately 1 in 100,000, although the incidence is particularly high in parts of Quebec (1 in 1846) (Grompe et al 1994;Laberge et al 1990) as well as in certain communities elsewhere such as Birmingham, UK, (1 in 20791) due to the large local population of certain ethnic groups in which consanguinity is common (Hutchesson et al 1996).…”