Article
Unexpectedly high prevalence of the mild form of propionic acidemia in Japan: presence of a common mutation and possible clinical implications.
Human genetics - 1 Aug 2002
Yorifuji Tohru, Kawai Masahiko, Muroi Junko, Mamada Mitsukazu, Kurokawa Keiji, Shigematsu Yosuke, Hirano Satoko, Sakura Nobuo, Yoshida Ichiro, Kuhara Tomiko, Endo Fumio, Mitsubuchi Hiroshi, Nakahata Tatsutoshi
Abstract excerpt
Propionic acidemia [MIM 606054] is a form of organic acidemia caused by genetic deficiency of propionyl-CoA carboxylase (PCC) and characterized by attacks of severe metabolic acidemia and hyperammonemia beginning in the neonatal period or in early infancy. There are, however, patients who have higher PCC activities and present later with unusual symptoms, such as mild mental retardation or extrapyramidal...
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