[Analysis of clinical phenotype and ACAT1 gene mutation in a family affected with beta-ketothiolase deficiency].

Objective: To investigate the clinical phenotype and ACAT1 gene mutation in a family affected with beta-ketothiolase deficiency (BKTD).

Methods: Clinical features and laboratory test data were collected. The probands were monozygotic twin brothers.

[Analysis of L2HGDH gene mutation in a patient with 2-hydroxyglutaric aciduria].

Objective: To explore pathogenic mutation in a family affected with 2-hydroxyglutaric aciduria.

Methods: Exons of 3 candidate genes, including L2HGDH, D2HGDH and SLC25A1, were amplified with polymerase chain reaction and subjected to direct sequencing.

Results: DNA sequencing has found that the proband and his affected younger brother have both carried a heterozygous mutation c.

[Analysis of MUT gene mutations in a patient with isolated methylmalonic acidemia].

Objective: To analyze the clinical features and mutation of MUT gene in a Chinese patient with isolated methylmalonic acidemia.

Methods: The clinical characteristics and laboratory tests data were collected. Genomic DNA was extracted from peripheral blood leukocytes.

[Analysis of PCCA and PCCB gene mutations in patients with propionic acidemia].

Objective: To analyze PCCA and PCCB gene mutations in 10 Chinese patients with propionic acidemia(PA).

Methods: Genomic DNA was extracted from peripheral blood leukocytes. The 39 exons and flanking sequences of the PCCA and PCCB genes were amplified with polymerase chain reaction and subjected to direct DNA sequencing.

[Analysis of ornithine transcarbamylase gene mutations in three boys affected with late-onset ornithine transcarbamylase deficiency].

Objective: To identify the types of OTC gene mutations in three male patients with late onset ornithine transcarbamylase deficiency (OTCD, MIM #311250).

Methods: Genomic DNA was extracted from peripheral blood leukocytes. The 10 exons and their flanking sequences of the OTC gene were amplified with polymerase chain reaction and subjected to direct DNA sequencing.

[Genetic analysis of ASS1, ASL and SLC25A13 in citrullinemia patients].

Objective: To detect potential mutations of Y9ASS1, ASL and SLC25A13 genes in four patients manifesting citrullinemia.

Methods: Genomic DNA was extracted from peripheral blood leukocytes. Exons and their flanking sequences of the three genes were amplified with polymerase chain reaction and subjected to direct DNA sequencing.

[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.