[Clinical investigation and mutation analysis of a child with citrin deficiency complicated with purpura, convulsive seizures and methioninemia].

Objective: To analyze the clinical features and SLC25A13 gene mutations of a child with citrin deficiency complicated with purpura, convulsive seizures and methioninemia.

Methods: The patient was subjected to physical examination and routine laboratory tests. Blood amino acids and acylcarnitines, and urine organic acids and galactose were analyzed respectively with tandem mass spectrometry and gas chromatographic mass spectrometry.

[Analysis of clinical features and GCDH gene mutations in four patients with glutaric academia type I].

Objective: To review clinical features of four male patients with glutaric academia type I and screen glutaryl-CoA dehydrogenase (GCDH) gene mutations.

Methods: The 4 patients underwent brain computer tomography (CT) and magnetic resonance imaging (MRI) analyses. Blood acylcarnitine and urine organic acid were analyzed with tandem mass spectrometry and gas chromatographic mass spectrometry.

[Utilization of high-resolution melting analysis to screen patients with neonatal intrahepatic cholestasis caused by citrin deficiency].

Objective: To assess the feasibility of high-resolution melting (HRM) analysis for screening patients with neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD).

Methods: Based on previous studies on SLC25A13 gene in Chinese patients with NICCD, four hotspot mutations (851del4, 1638ins23, IVS6+5G>A and IVS16ins3kb) were selected. Results of the HRM analysis was validated using 50 negative controls and 20 patients with NICCD whose genotypes were confirmed previously by direct sequencing.

[SLC25A13 gene analysis in neonates with intrahepatic cholestasis caused by citrin deficiency].

Objective: Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) which resulted from mutation in SLC25A13 gene can present transient intrahepatic cholestasis, low birth weight, growth retardation, hypoproteinemia and so on. This study aimed to identify the mutation type of NICCD patients by DNA sequencing.

Methods: Twenty children diagnosed as NICCD were consented to enroll in this study.

A regulatory polymorphism in promoter region of TNFR1 gene is associated with Kawasaki disease in Chinese individuals.

Tumor necrosis factor (TNF) and the TNF receptor superfamily (TNF-TNFR) plays very important roles in the pathogenesis of Kawasaki disease (KD) by leukocyte recruitment, upregulation of matrix-degrading enzymes and proinflammatory cytokines. This study aims to investigate whether potential polymorphisms in TNF receptor superfamily member 1A gene (TNFR1) are associated with KD and its effects on transcriptions activity of TNFR1. Genetic variations of TNFR1 promoter and coding regions in 132 unrelated patients with KD and 212 age-matched healthy controls recruited from a population of Chinese individuals were screened by direct sequencing.

[Analysis of clinical features and gene mutations in two Chinese pedigrees with late-onset methylmalonic acidemia, cblC type].

Objective: CblC is the most common type of methylmalonic acidemia with homocysteinemia. MMACHC is the coding gene. This study aimed at understanding clinical features and gene mutations in 2 Chinese pedigrees who had late-onset methylmalonic acidemia complicated with homocysteinemia.