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[Clinical and mutational study of a Chinese infant with isovaleric acidemia].

Authors
  • Qiu, Wen-juan
  • Gu, Xue-fan
  • Ye, Jun
  • Han, Lian-shu
  • Bai, Hai-tao
  • Wang, Xia
  • Gao, Xiao-lan
  • Wang, Yu
  • Jin, Jing
  • Zhang, Hui-wen
Type
Published Article
Journal
Zhonghua er ke za zhi. Chinese journal of pediatrics
Publication Date
Jul 01, 2008
Volume
46
Issue
7
Pages
526–530
Identifiers
PMID: 19099814
Source
Medline
License
Unknown

Abstract

From the clinical course, obvious elevation of blood C5-carnitine and urine isovaleric glycine, this patient's disorder should be classified as "metabolically severe" type of IVA which suggest that c.466G > C (G127A) mutation could severely damage the function of the IVD protein. To our knowledge, this is the first characterization of IVD gene mutations in the mainland of China.

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