title: [Clinical investigation and mutation analysis of a child with citrin deficiency complicated with purpura, convulsive seizures and methioninemia].
abstract: 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. SLC25A13 gene mutation screening was conducted by high resolution melt (HRM) analysis.
  
  
  RESULTS
  The petechiae on the patient's face and platelet count (27×10(9)/L, reference range 100×10(9)/L-300×10(9)/L) supported the diagnosis of immunologic thrombocytopenic purpura (ITP). Laboratory tests found that the patient have abnormal coagulation, cardiac enzyme, liver function and liver enzymes dysfunction. Tandem mass spectrometry also found methionine to be increased (286 μmol/L, reference ranges 8-35 μmol/L). The patient did not manifest any galactosemia, citrullinemia and tyrosinemia. Analysis of SLC25A13 gene mutation found that the patient has carried IVS16ins3kb, in addition with abnormal HRM result for exon 6. Direct sequencing of exon 6 revealed a novel mutation c.495delA. The same mutation was not detected in 100 unrelated healthy controls. Further analysis of her family has confirmed that the c.495delA mutation has derived from her farther, and that the IVS16ins3kb was derived from her mother.
  
  
  CONCLUSIONS
  The clinical features and metabolic spectrum of citrin deficiency can be variable. The poor prognosis and severity of clinical symptoms of the patient may be attributed to the novel c.495delA mutation.
authors: Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital, Shenzhen, Guangdong 518026, P.R. China. lxh201366@163.com.
authors: Peng-qiang
authors: PQ
authors: Wen
authors: Guo-bing
authors: GB
authors: Wang
authors: Zhan-ling
authors: ZL
authors: Chen
authors: Xiao-hong
authors: XH
authors: Liu
authors: Dong
authors: D
authors: Cui
authors: Yue
authors: Y
authors: Shang
authors: Cheng-rong
authors: CR
authors: Li
mesh_terms: D000592:Amino Acid Metabolism, Inborn Errors / Q000235:genetics* / Q000473:pathology; D002135:Calcium-Binding Proteins / Q000172:deficiency* / Q000235:genetics*; D004252:DNA Mutational Analysis / Q000379:methods; D005260:Female; D050938:Glycine N-Methyltransferase / Q000172:deficiency* / Q000235:genetics; D006801:Humans; D007223:Infant; D033681:Mitochondrial Membrane Transport Proteins / Q000235:genetics; D027361:Organic Anion Transporters / Q000172:deficiency* / Q000235:genetics*; D010375:Pedigree; D011693:Purpura / Q000235:genetics* / Q000473:pathology; D012640:Seizures / Q000235:genetics* / Q000473:pathology
chemical_list: D002135:Calcium-Binding Proteins; D033681:Mitochondrial Membrane Transport Proteins; D027361:Organic Anion Transporters; C119629:SLC25A13 protein, human; C008822:citrin; D050938:Glycine N-Methyltransferase