title: [Mutation analysis of a family with 2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency].
abstract: OBJECTIVE
  The aim of this study was to explore the genetic features of a family with 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency (MHBDD) which may provide the basis for the diagnosis and genetic counseling.
  
  
  METHODS
  Clinical data of the proband was collected, total RNA and genomic DNA were extracted from the peripheral blood. The whole coding region of the ACAT1 gene was amplified by RT-PCR. 5' noncoding region of the ACAT1 gene and all 6 exons and flanking intron regions of the HADH2 gene were amplified by PCR. All amplification products were directly sequenced and compared with the reference sequence.
  
  
  RESULTS
  (1) The patient was a one-year-old boy who presented with psychomotor retardation and astasia when he was admitted to the hospital. Biochemical test revealed slight hyperlactatemia (3.19 mmol/L) and magnetic resonance imaging showed delayed myelination. 2-Methylacetoacetyl-CoA thiolase deficiency was suggested by gas chromatography-mass spectrometry. (2) There was no mutation in the ACAT1 gene and a hemizygous missense mutation c.388C > T was found in the 4 exon of the HADH2 gene which resulted in p. R130C. Proband's mother was the heterozygote and the father was normal.
  
  
  CONCLUSIONS
  This is the first report on MHBDD patient and HADH2 mutation in China. p.R130C is responsible for the pathogenesis of the disease in the infant.
authors.affiliation: Tianjin Pediatric Research Institute, Tianjin Children's Hospital, Tianjin 300074, China.
authors.forename: Jian-bo
authors.initials: JB
authors.lastname: Shu
authors.forename: Yu-qin
authors.initials: YQ
authors.lastname: Zhang
authors.forename: Shu-zhen
authors.initials: SZ
authors.lastname: Jiang
authors.forename: Chun-hua
authors.initials: CH
authors.lastname: Zhang
authors.forename: Ying-tao
authors.initials: YT
authors.lastname: Meng
authors.forename: Hong
authors.initials: H
authors.lastname: Wang
authors.affiliation: Email: ypingsli@yahoo.com.
authors.forename: Li
authors.initials: L
authors.lastname: Song
mesh_terms: D015094:3-Hydroxyacyl CoA Dehydrogenases / Q000235:genetics; D000101:Acetyl-CoA C-Acetyltransferase / Q000172:deficiency* / Q000235:genetics; D000214:Acyl Coenzyme A / Q000235:genetics / Q000378:metabolism; D001483:Base Sequence; D004252:DNA Mutational Analysis; D020820:Dyskinesias; D006579:Heterozygote; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000201:enzymology / Q000235:genetics* / Q000473:pathology; D008052:Lipid Metabolism, Inborn Errors / Q000235:genetics* / Q000473:pathology; D008297:Male; D038901:X-Linked Intellectual Disability; D020125:Mutation, Missense; D010375:Pedigree; D020133:Reverse Transcriptase Polymerase Chain Reaction
chemical_list: D000214:Acyl Coenzyme A; C037766:2-methylacetoacetyl-coenzyme A; D015094:3-Hydroxyacyl CoA Dehydrogenases; C108634:HSD17B10 protein, human; D000101:Acetyl-CoA C-Acetyltransferase