title: Evaluation of a mass screening program for lysinuric protein intolerance in the northern part of Japan.
abstract: Lysinuric protein intolerance (LPI:MIM 222700) is an autosomal recessive disease characterized by defective transport of the dibasic amino acids. We recently reported a local cluster of LPI in the northern part of Japan (Koizumi et al., 2000). Mutational analysis of the LPI patients in this local cluster revealed they were exclusively homozygous for the R410X mutation. The effectiveness of early intervention with citrulline therapy (200 mg/kg per day) and protein restriction (1.5 g/kg per day) was confirmed in these patients. Mass screening was conducted in 4,568 newborn babies between 1999 and 2002, which was estimated to cover 100% of almost all newborns delivered in the screened area. Forty heterozygous newborns were found (0.88%), leading to an estimated incidence of LPI of 1:51,984. The number of people that required screening to detect one case was 51,984, and the cost for mass screening was 30 cents/person (a total of dollars 15,600). This is comparable to, or even less than, the cost of currently screened diseases in Japan. Therefore, we conclude that a mass screening program for LPI can be introduced effectively and economically into an area where an LPI cluster is located as the result of a founder mutation.
authors.affiliation: Department of Health and Environmental Sciences, Kyoto University School of Public Health, Kyoto 606-8501, Japan. koizumi@pbh.med.kyoto-u.ac.jp
authors.forename: Akio
authors.initials: A
authors.lastname: Koizumi
authors.forename: Norio
authors.initials: N
authors.lastname: Matsuura
authors.forename: Sumiko
authors.initials: S
authors.lastname: Inoue
authors.forename: Maki
authors.initials: M
authors.lastname: Utsunomiya
authors.forename: Jun-Ichi
authors.initials: J
authors.lastname: Nozaki
authors.forename: Kayoko
authors.initials: K
authors.lastname: Inoue
authors.forename: Yuhei
authors.initials: Y
authors.lastname: Takasago
mesh_terms: D000293:Adolescent; D000328:Adult; D000592:Amino Acid Metabolism, Inborn Errors / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics*; D027241:Amino Acid Transport System y+L; D000599:Amino Acids, Diamino / Q000378:metabolism*; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005260:Female; D018703:Founder Effect; D027301:Fusion Regulatory Protein 1, Light Chains / Q000235:genetics*; D005820:Genetic Testing / Q000191:economics / Q000379:methods*; D006720:Homozygote; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007564:Japan / Q000453:epidemiology; D008297:Male; D015997:Neonatal Screening / Q000191:economics / Q000379:methods; D012680:Sensitivity and Specificity
chemical_list: D027241:Amino Acid Transport System y+L; D000599:Amino Acids, Diamino; D027301:Fusion Regulatory Protein 1, Light Chains; C421261:SLC7A7 protein, human