Cirrhosis in an infant heterozygous for classical citrullinaemia

Ezgu F. S., Tumer L., Dalgic B., Hasanoglu A., Kobayashi K., Saheki T.

ACTA PAEDIATRICA, cilt.94, sa.12, ss.1849-1851, 2005 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 94 Sayı: 12
  • Basım Tarihi: 2005
  • Doi Numarası: 10.1080/0803525051003078
  • Dergi Adı: ACTA PAEDIATRICA
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.1849-1851
  • Anahtar Kelimeler: infantile, urea cycle disorder, cirrhosis, LIVER-TRANSPLANTATION, CITRIN DEFICIENCY, IDENTIFICATION, HETEROGENEITY, MUTATIONS, PHENOTYPE, CHILDREN, GENE
  • Gazi Üniversitesi Adresli: Evet

Özet

Classical citrullinaemia is caused by the inherited deficiency of argininosuccinate synthetase. Although varying degrees of liver involvement have been observed in urea cycle defects, including classical citrullinaemia, the co-existence of liver failure in a patient heterozygous for the disease has not been reported before. A female infant was investigated to find out the aetiology of early infantile liver failure. She was later found to be a heterozygote for the G390R mutation found in severe citrullinaemia patients.