Clinical features and management of organic acidemias in Japan

Journal of Human Genetics - Tập 58 Số 12 - Trang 769-774 - 2013
Daisuke Fujisawa1, Kimitoshi Nakamura1, Hiroshi Mitsubuchi1, Toshihiro Ohura2, Yosuke Shigematsu3, Tohru Yorifuji4, Mureo Kasahara5, Reiko Horikawa6, Fumio Endo1
1Department of Pediatrics Kumamoto University Graduate School of Medical Sciences Kumamoto Japan
2Division of Pediatrics, Sendai City Hospital, Sendai, Japan
3School of Nursing, Faculty of Medical Sciences, University of Fukui, Fukui, Japan.
4Department of Pediatric Endocrinology and Metabolism, Children's Medical Center, Osaka City General Hospital, Osaka, Japan
5Department of Transplantation Surgery, National Center for Child Health and Development, Tokyo, Japan.
6Department of Endocrinology and Metabolism, National Center for Child Health and Development, Tokyo, Japan

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Fenton, W. A., Gravel, R. A. & Rosenblatt, D. S. in The Metabolic and Molecular Bases of Inherited Disease 8th (eds Scriver C. R., Beaudet A. L., Sly W. S., Valle D., 2165–2193 (McGraw-Hill: New York, 2001).

Kido, J., Nakamura, K., Mitsubuchi, H., Ohura, T., Takayanagi, M., Matsuo, M. et al. Long-term outcome and intervention of urea cycle disorders in Japan. J. Inherit. Metab. Dis. 35, 777–785 (2012).

Kido, J., Nakamura, K., Matsumoto, S., Mitsubuchi, H., Ohura, T., Shigematsu, Y. et al. Current status of hepatic glycogen storage disease in Japan: clinical manifestations, treatments and long-term outcomes. J. Hum. Genet. 58, 285–292 (2013).

Millington, D. S., Kodo, N., Norwood, D. L. & Roe, C. R. Tandem mass spectrometry: a new method for acylcarnitine profiling with potential for neonatal screening for inborn errors of metabolism. J. Inherit. Metab. Dis. 13, 321–324 (1990).

Grünert, S. C., Müllerleile, S., de Silva, L., Barth, M., Walter, M., Walter, K. et al. Propionic acidemia: neonatal versus selective metabolic screening. J. Inherit. Metab. Dis. 35, 41–49 (2012).

Shigemastu, Y., Hirano, S., Hata, I., Tanaka, Y., Sudo, M., Sakura, N. et al. Newborn mass screening and selective screening using electrospray tandem mass spectrometry in japan. J. Chromatogr. B Analyt. Technol. Biomed. Life Sci. 776, 39–48 (2002).

Yamaguchi, S. Newborn screening in Japan: restructuring for the new Era. Ann. Acad. Med. Singapore 37, 13–17 (2008).

Shigeamatsu, Y., Hata, I., Kikawa, Y., Mayumi, M., Tanaka, Y., Sudo, M. et al. Modifications in electrospray tandem mass spectrometry for a neonatal-screening pilot study in Japan. J. Chromatogr. B Biomed. Sci. Appl. 731, 97 (1999).

Zwicker, T., Lindner, M., Aydin, H. I., Baumgartner, M. R., Bodamer, O. A., Burlina, A. B. et al. diagnostic work-up and management of patients with isolated methylmalonic acidurias in European metabolic centers. J. Inherit. Metab. Dis. 31, 361–367 (2008).

Klose, D. A., Kölker, S., Heinrich, B., Prietsch, V., Mayatepek, E., von Kries, R. et al. Incidence and short-term outcome of children with symptomatic presentation of organic acid and fatty acid oxidation disorders in Germany. Pediatrics 110, 1204–1211 (2002).

Dionisi-Vici, C., Deodato, F., Röschinger, W., Rhead, W. & Wilcken, B. ‘Classical ’organic acid, propionic acidurias, methylmalonic acidurias and isovaleric acidurias: long-term outcome and effects of expanded newborn screening using tandem mass spectrometry. J. Inherit. Metab. Dis. 29, 383–389 (2006).

Cosson, M. A., Benoist, J. F., Touati, G., Déchaux, M., Royer, N., Grandin, L. et al. Long-term outcome in methylmalonic aciduria:A series of 30 French patients. Mol. Genet. Metab. 97, 172–178 (2009).

van der Meer, S. B., Poggi, F., Spada, M., Bonnefont, J. P., Ogier, H., Hubert, P. et al. Clinical outcome of long-term management of patients with vitamin B12-unresponsive methylmalonic acidemia. J. Pediatr. 125, 903–908 (1994).

Grünert, S. C., Müllerleile, S., De Silva, L., Barth, M., Walter, M., Walter, K. et al. Propionic acidemia: clinical and outcome in 55 patients and adolescent patients. Orphannet. J. Rare Dis. 8, 6 (2013).

Pena, L. & Burton, B. K. Survey of health status and complications among propionic acidemia patients. Am. J. Med. Genet. 158A, 1641–1646 (2012).

Boeckx, R. L. & Hicks, J. M. Methylmalonic acidemia with the unusual complication of severe hyperglycemia. Clin. Chem. 28, 1801–1803 (1982).

Imen, M., Hanene, B., Ichraf, K., Aida, R., Ilhem, T., Naziha, K. et al. Methylmalonic acidemia and hyperglycemia: an unusual association. Brain. Dev. 34, 113–114 (2012).

Lee, N. C., Chien, Y. H., Peng, S. F., Huang, A. C., Liu, T. T., Wu, A. S. et al. Brain damage by mild metabolic derangements in methylmalonic academia. Pediatr. Neurol. 39, 325–329 (2008).

Sutton, V. R., Chapman, K. A., Gropman, A. L., MacLeod, E., Stagni, K., Summar, M. L. et al. Chronic management and health supervision of individuals with propionic acidemia. Mol. Genet. Metab. 105, 26–33 (2012).

Chapman, K. A., Gropman, A., MacLeod, E., Stagni, K., Summar, M. L., Ueda, K. et al. Acute management of propionic acidemia. Mol. Genet. Metab. 105, 16–25 (2012).

Deodato, F., Boenzi, S., Santorelli, F. M. & Dionisi-Vici, C. Methylmalonic and propionic aciduria. Am. J. Med. Genet. 142C, 104–112 (2006).

Yannicelli, S. Nutrition therapy of organic acidaemias with amino-based formulas: emphasis on methylmalonic and propionic acidemia. J. Inherit. Metab. Dis. 29, 281–287 (2006).

O'Shea, C. J., Sloan, J. L., Wiggs, E. A., Pao, M., Gropman, A., Baker, E. H. et al. Neurocognitive phenotype of isolated methylmalonic academia. Pediatrics 129, e1541–e1551 (2012).

Melo, D. R., Mirandola, S. R., Assunção, N. A. & Castilho, R. F. Methylmolonate impairs mitochondrial respiratory supported by NADH-linked substrates: involvement of mitochondrial glutamate metabolism. J. Neurosci. Res. 90, 1190–1199 (2012).

Yorifuji, T., Kawai, M., Muroi, J., Mamada, M., Kurokawa, K., Shigematsu, Y. et al. Unexpectedly high prevalence of the mild form of propionic acidemia in Japan: presence of a common mutation and possible clinical implications. Hum. Genet. 111, 161–165 (2002).