title: [Clinical features of pyruvate dehydrogenase complex deficiency and gene testing in one case].
abstract: OBJECTIVE
  To analyze the clinical characteristics and genetype of one children who had been diagnosed with pyruvate dehydrogenase complex deficiency.
  
  
  METHODS
  Comprehensive analyses of this case were performed, including clinical symptoms, signs, biochemical examinations and therapeutic effects. The eleven exons and splicing areas of PDHA1 were amplified with genomic DNA from whole blood. And variations were investigated by sequencing the PCR product. The patient was diagnosed with pyruvate dehydrogenase complex deficiency by sequence analysis of PDHA1 gene.
  
  
  RESULTS
  The patient was a 2 years and 4 monthes old boy. He presented with muscle hypotonia and weakness for one year, and experienced recurrent episodes of unstable head control, unable to sit by himself or stand without support, with persistently hyperlactacidemia. Metabolic testing revealed blood lactate 5.37 mmol/L, pyruvate 0.44 mmol/L, and lactate/pyruvate ratio was 12.23. MRI of the brain showed hyperintense signals on the T2 and T2 Flair weighted images in the basal ganglia bilaterally. Sequence analysis of PDHA1 gene showed a G>A point mutation at nucleotide 778, resulting in a substitution of glutarnine for arginine at position 263 (R263Q). And the diagnosis of pyruvate dehydrogenase complex deficiency was identified. By giving the therapy with ketogenic diet, vitamin B(1), coenzyme Q(10) and L-carnitine , the boy was in a stable condition.
  
  
  CONCLUSIONS
  The severity and the clinical phenotypes of pyruvate dehydrogenase complex deficiency varied. Sequence analysis of PDHA1 gene revealed a 788G>A (R263Q) mutation. Patients who presented with unexplained muscle hypotonia, weakness and hyperlactacidemia could be diveded by gene analysis. And appropriate treatment can improve the quality of life.
authors.affiliation: Department of Genetics and Endocrinology, Guangzhou Women and Children's Medical Center of Guangzhou Medical University, Guangzhou 510623, China.
authors.forename: Moling
authors.initials: M
authors.lastname: Wu
authors.affiliation: Department of Genetics and Endocrinology, Guangzhou Women and Children's Medical Center of Guangzhou Medical University, Guangzhou 510623, China. Email:liliuxia@hotmail.com.
authors.forename: Li
authors.initials: L
authors.lastname: Liu
authors.affiliation: Department of Genetics and Endocrinology, Guangzhou Women and Children's Medical Center of Guangzhou Medical University, Guangzhou 510623, China.
authors.forename: Yanna
authors.initials: Y
authors.lastname: Cai
authors.affiliation: Department of Genetics and Endocrinology, Guangzhou Women and Children's Medical Center of Guangzhou Medical University, Guangzhou 510623, China.
authors.forename: Huiying
authors.initials: H
authors.lastname: Sheng
authors.affiliation: Department of Genetics and Endocrinology, Guangzhou Women and Children's Medical Center of Guangzhou Medical University, Guangzhou 510623, China.
authors.forename: Jing
authors.initials: J
authors.lastname: Cheng
authors.affiliation: Department of Genetics and Endocrinology, Guangzhou Women and Children's Medical Center of Guangzhou Medical University, Guangzhou 510623, China.
authors.forename: Xiuzhen
authors.initials: X
authors.lastname: Li
authors.affiliation: Department of Genetics and Endocrinology, Guangzhou Women and Children's Medical Center of Guangzhou Medical University, Guangzhou 510623, China.
authors.forename: Xi
authors.initials: X
authors.lastname: Yin
authors.affiliation: Department of Genetics and Endocrinology, Guangzhou Women and Children's Medical Center of Guangzhou Medical University, Guangzhou 510623, China.
authors.forename: Zhikun
authors.initials: Z
authors.lastname: Lu
authors.affiliation: Department of Genetics and Endocrinology, Guangzhou Women and Children's Medical Center of Guangzhou Medical University, Guangzhou 510623, China.
authors.forename: Ruizhu
authors.initials: R
authors.lastname: Lin
authors.affiliation: Department of Genetics and Endocrinology, Guangzhou Women and Children's Medical Center of Guangzhou Medical University, Guangzhou 510623, China.
authors.forename: Zhizi
authors.initials: Z
authors.lastname: Zhou
authors.affiliation: Department of Genetics and Endocrinology, Guangzhou Women and Children's Medical Center of Guangzhou Medical University, Guangzhou 510623, China.
authors.forename: Liping
authors.initials: L
authors.lastname: Fan
authors.affiliation: Department of Genetics and Endocrinology, Guangzhou Women and Children's Medical Center of Guangzhou Medical University, Guangzhou 510623, China.
authors.forename: Hongsheng
authors.initials: H
authors.lastname: Liu
mesh_terms: D001921:Brain; D002331:Carnitine; D002675:Child, Preschool; D005091:Exons / Q000235:genetics; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D009154:Mutation; D010641:Phenotype; D030481:Pyruvate Dehydrogenase (Lipoamide) / Q000235:genetics*; D015325:Pyruvate Dehydrogenase Complex Deficiency Disease / Q000175:diagnosis* / Q000235:genetics*; D019289:Pyruvic Acid
chemical_list: D019289:Pyruvic Acid; D030481:Pyruvate Dehydrogenase (Lipoamide); D002331:Carnitine