Pediatrics & Therapeutics
Open Access

Sahin Takci

Publications

• Case Report
  Cystathionine Β-Synthase Deficiency, Turner Syndrome and Immune Hydrops Fetalis in a Newborn: A Rare Coincidence
  Author(s): Ozge Surmeli Onay *,Burcu Ozturk Hismi ,Riza Koksal Özgül ,Sahin Takci ,Turgay Coskun ,Sule Yigit Ozge Surmeli Onay *,Burcu Ozturk Hismi ,Riza Koksal Özgül ,Sahin Takci ,Turgay Coskun ,Sule Yigit
  
  Cystathionine β-synthase (CBS) deficiency is a rare inborn error of amino acid metabolism affecting energy supply at the cellular level. Neonatal screening allows early presymptomatic diagnosis and better outcome, by preventing the complications like thrombotic disease. Here we present a female newborn baby with immune hydrops fetalis and mosaic Turner syndrome who has incidentally been early diagnosed with CBS deficiency upon detection of increased methionine on serum amino acid chromatography. The patient was unresponsive to pridoxine treatment which was compatible with p.S349N mutation detected on both alleles of cystathionine β-synthase gene. We would like to stress the point that CBS deficiency can be diagnosed by screening even in the setting of exchange transfusions and amino acid paper chromotography is a cheap and valuable metabolic screening tool in experien.. View More»
  DOI: 10.4172/2161-0665.1000145

  Abstract PDF

Relevant Topics