Follow-up study of a nation-wide neonatal metabolic screening program in Japan

Tada, Keiya; Tateda, Hiraku; Arashima, S; Sakai, Kaoru; Kitagawa, Teruo; Aoki, Keiko M.; Suwa, Seizo; Kusumoto, Masahiko; Oura, Toshiaki; Takesada, Masashi; Kuroda, Yasuhiro; Yamashita, Fumio; Matsuda, Ichiro; Naruse, Hiroshi

doi:10.1007/bf00442450

Cited by 42 publications

(11 citation statements)

References 5 publications

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“…It is far less prevalent in Japan-1:1,051,959 (Tada et al 1984). However, there have recently been several reports that the prevalence of CBS deficiency has been underestimated and that the actual homocystinuria population is larger than previously thought .…”

Section: Introductionmentioning

confidence: 99%

Identification and functional analysis of cystathionine beta-synthase gene mutations in patients with homocystinuria

Lee

Yoo

et al. 2005

J Hum Genet

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Homocystinuria is an autosomal recessive inborn error of metabolism that is most often caused by mutation in the cystathionine beta-synthase (CBS) gene. Patients may develop serious clinical manifestations such as lens dislocation, mental retardation, osteoporosis, and atherothrombotic vascular disease. Over 100 mutations have been reported, but so far, none have been reported in Korea. Mutation analysis of the CBS gene in six Korean patients with homocystinuria was performed by direct sequencing. Eight mutations were identified, including four known mutations (T257M, R336C, T353M, and G347S) and four novel mutations (L154Q, A155V, del234D, and A288T). All patients were compound heterozygotes. To characterize these mutations, normal or mutated forms of CBS were cloned into pcDNA3.1 expression vector followed by transfection into mammalian cells for transient expression. Whereas the expression levels of mutant proteins were comparable to that of normal control, enzyme activities of all the mutant forms were significantly decreased. In addition, a novel single nucleotide polymorphism, R18C, was identified, which showed onethird to two-thirds the enzyme activity of wild type and 1% of the allele frequency in normal control. The spectrum of mutations observed in Korean patients bears less resemblance to those observed in Western countries.

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Section: Introductionmentioning

confidence: 99%

Identification and functional analysis of cystathionine beta-synthase gene mutations in patients with homocystinuria

Lee

Yoo

et al. 2005

J Hum Genet

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“…A nationwide screening of newborn infant for inborn errors of metabolism in Japan revealed an unexpectedly high incidence of histidinemia has been found (Tada et al, 1984). However, it is probable that histidinemia is not a single genetic disease, because the clinical features and biochemical findings in cases with histidinemia vary.…”

Section: Discussionmentioning

confidence: 99%

Genetic heterogeneity of histidinemia detected by screening newborn infants in Japan

Kuroda

Watanabe

et al. 1985

Jap J Human Genet

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SummaryEleven patients with histidinemia, detected by screening newborn infants, were tentatively classified into two groups on the basis of their skin histidase activity: those with activity of less than 10~ (group 1), and those with activity of about 20~ (group 2) of the normal value. One of the patients in group 2 had two histidinemic siblings who were also classified into group 2. The skin histidase of the two histidinemic siblings were found to have altered kinetic properties. The skirt histidase activities of the 22 parents of the histidinemic patients in groups 1 and 2 ranged from 26 to 82~ and from 45 to 79~, respectively, of the average control value. All the 16 parents of the eight patients in group 1 and the six parents of the three probands of group 2 could be distinguished from the patients in groups 1 and 2, respectively, by their skin histidase activity as well as fasting level of serum histidine. In addition, 20 of 22 parents could be distinguished from normal controls by their skin histidase activity. However, two fathers of patients in groups 1 and 2 seemed to be normal, although the mothers were presumably heterozygous carriers.These results suggest that there is genetic heterogeneity in histidinemia detected by screening newborn infants in Japan. The results also suggest that some cases of histidinemia exhibit different mode of inheritance, although most of histidinemia is autosomal recessive.

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“…In Asia, screening programs for common IMD have been carried out in China, India, Japan, Singapore, and Taiwan [Liu and Zuo, 1986;Chen et al, 1989;Rao et al, 1988;Kaur et al, 1994;Tada et al, 1984;Wong, 1978;Hsiao, 1992;Tan et al, 1995]. In the Japanese population, the incidence of maple syrup urine disease (MSUD), phenylketonuria (PKU), and galactosemia are 1/526,000, 1/109,000, and 1/789,000, respectively, the first one similar to, but the last two about ten times lower than in Caucasians [Tada et al, 1984].…”

Section: Introductionmentioning

confidence: 99%

“…In the Japanese population, the incidence of maple syrup urine disease (MSUD), phenylketonuria (PKU), and galactosemia are 1/526,000, 1/109,000, and 1/789,000, respectively, the first one similar to, but the last two about ten times lower than in Caucasians [Tada et al, 1984]. Among the Chinese, incidence of most IMD are unknown except PKU [Lo, 1987].…”

Section: Introductionmentioning

confidence: 99%

Biochemical investigation of young hospitalized Chinese children: Results over a 7-year period

et al. 1997

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During the seven years from January 1989 to December 1995, we investigated 2,269 Chinese infants and young children for metabolic disorders in Hong Kong. These young patients, all aged under 4 years and originated from southern China, were ill with no apparent cause and had clinical manifestations suggestive of inherited metabolic diseases. A spot urine and a plasma sample were obtained from each patient for biochemical analysis, including urinary organic acid identification and plasma amino acid analysis. Six cases of mucopolysaccharidosis, four multiple carboxylase deficiency, three 2-methylacetoacetyl CoA thiolase deficiency, two methymalonic aciduria, one glutaric aciduria type I, one glutaric aciduria type II, one a-oxoglutaric aciduria, and one case of orotic aciduria were detected. There were also single suspected cases of medium-chain acyl-CoA dehydrogenase deficiency and isovaleric aciduria. No primary amino acid disorder, such as phenylketouria and maple syrup urine disease, has been detected. Our results suggest that a different pattern of inherited metabolic diseases exists in the southern Chinese when compared with the Chinese in other regions of China.

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Follow-up study of a nation-wide neonatal metabolic screening program in Japan

Cited by 42 publications

References 5 publications

Identification and functional analysis of cystathionine beta-synthase gene mutations in patients with homocystinuria

Identification and functional analysis of cystathionine beta-synthase gene mutations in patients with homocystinuria

Genetic heterogeneity of histidinemia detected by screening newborn infants in Japan

Biochemical investigation of young hospitalized Chinese children: Results over a 7-year period

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