citrin cause birth defects in 3 cases of intrahepatic cholestasis of clinical features.docVIP

 PAGE \* MERGEFORMAT 8 citrin cause birth defects in 3 cases of intrahepatic cholestasis of clinical features On: Jun Cai Aidong Jiang Tao Zhou Zhao Group [Abstract] Objective: To investigate the defect caused by citrin neonatal intrahepatic cholestasis (NICCD clinical features. Methods: The subjects in May 2007 ~ January 2009 were treated 3 cases of gas chromatography mass spectrometry (GC MS of urinary diagnosis of citrin deficiency leads to NICCD clinical data in children. Results: 3 patients in the 2 males and 1 female, students then began the disease, outstanding performance as jaundice, hepatomegaly, abnormal liver function. Conclusion : citrin deficiency leads to the NICCD is unexplained differential diagnosis of jaundice. [Keywords:] citrin deficiencies neonatal intrahepatic cholestasis by gas chromatography mass spectrometry citrin deficiency leads to neonatal intrahepatic cholestasis (neonatal intrahepatic cholestasis caused by citrin deficiency, NICCD citrin protein congenital dysfunction is a genetic metabolic disease, the metabolic results include iconic galactosemia, tyrosine Urine and blood citrulline, methionine, threonine, tyrosine, lysine, arginine and ornithine increased [1]. In high-risk patients with inherited metabolic diseases of the disease-positive rate in the first two, only secondary to methylmalonic acidemia [2]. The disease first appeared in 2001, reported in the literature [3], clinical diagnosis is currently low. To further enhance the understanding of this disease is now on 3 patients in our hospital clinical NICCD data analysis, reported below. 1 Materials and Methods 1.1 General Information Our department in May 2007 ~ January 2009 patients treated NICCD 3. 2 males and 1 female, admitted aged 1 to 3 months, the onset of 1 ~ 3 d, birth weight of 2.4 ~ 3.0 kg, family no clear genetic history. 1.2 Diagnosis Major clinical symptoms, signs, routine laboratory tests, urine gas chromatography mass spectromet