Three siblings with nonketotic hyperglycinaemia, mildly elevated plasma homocysteine concentrations and moderate methylmalonic aciduria

Journal of Inherited Metabolic Disease - Tập 23 - Trang 520-522 - 2000
C. Randak1, W. Röschinger1, B. Rolinski1, H.-B. Hadorn1, D. A. Applegarth2,3, A. A. Roscher1
1Department of Pediatrics, Dr. von Haunersches Kinderspital, Ludwig-Maximilians-Universität München, Munich, Germany
2Department of Pediatrics, University of British Columbia, Canada
3Biochemical Diseases Laboratory, British Columbia's Children's Hospital, Vancouver, Canada

Tài liệu tham khảo

Baumgartner ER, Bachmann C, Brechbuhler T, Wick H (1975) Acute neonatal nonketotic hyperglycinemia: normal propionate and methylmalonate metabolism. Pediatr Res 9: 559–564.

Farriaux JP, Morel P, Hommes FA (1976) Nonketotic hyperglycinemia with increased propionic acid excretion and hyperammonemia, N Engl J Med 294: 558.

Hamosh A, Johnston MV, Valle D (1995) Nonketotic hyperglycinemia. In Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease, 7th edn. New York: McGraw-Hill, 1337–1348.

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Perry TL, Urquhart N, MacLean J, et al (1975) Nonketotic hyperglycinemia. Glycine accumulation due to absence of glycine cleavage in brain. N Engl J Med 292: 1269–1273.

Van Hove JLK, Lazeyras F, Zeisel SH, et al (1998) One-methyl group metabolism in nonketotic hyperglycinaemia: mildly elevated cerebrospinal Fluid homocysteine levels. J Inherit Metab Dis 21: 799–811.

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Thông tin xuất bản

Journal of Inherited Metabolic Disease

Tập 23

520-522

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