Urinary acid profiles in asymptomatic and symptomatic siblings with propionyl CoA carboxylase deficiency.

DOI
  • KUHARA Tomiko
    Department of Biochemistry, Institute of Human Genetics, Kanazawa Medical University
  • MATSUMOTO Masahiro
    Department of Biochemistry, Institute of Human Genetics, Kanazawa Medical University
  • INOUE Yoshito
    Department of Biochemistry, Institute of Human Genetics, Kanazawa Medical University
  • OHKURA Takashi
    Department of Biochemistry, Institute of Human Genetics, Kanazawa Medical University
  • AOYAMA Tsuneo
    Department of Pediatrics, Shinko Hospital
  • MATSUO Masafumi
    Department of Pediatrics, Kobe University School of Medicine
  • MATSUMOTO Isamu
    Department of Biochemistry, Institute of Human Genetics, Kanazawa Medical University

抄録

Urinary organic acid profiles of a 12 year-old asymptomatic boy and his 14-year-old symptomatic male sibling were studied by means of gas chromatography-mass spectrometry, and both were chemically diagnosed as having propionic acidemia. The elder brother had developed frequent hyperammonemic attacks during infancy, while the younger had always been asymptomatic. The asymptomatic boy excreted diagnostic metabolites in quantities similar to those of his elder brother. Our observations indicate that propionyl CoA carboxylase deficiency is reflected in urinary organic acid profiles even in an asymptomatic case, and emphasize the importance of investigating the urinary organic acids of asymptomatic siblings of a propionic acidemia patient, especially when their urinary glycine levels are significantly elevated.

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詳細情報 詳細情報について

  • CRID
    1390282679648008192
  • NII論文ID
    130003670659
  • DOI
    10.3164/jcbn.7.1
  • ISSN
    18805086
    09120009
  • 本文言語コード
    en
  • データソース種別
    • JaLC
    • Crossref
    • CiNii Articles
  • 抄録ライセンスフラグ
    使用不可

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