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20231224101009.0 |
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231224s2013 xx ||||| 00| ||chi c |
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|a pubmed24n0781.xml
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|a (DE-627)NLM234309164
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|a (NLM)24406234
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|a DE-627
|b ger
|c DE-627
|e rakwb
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| 041 |
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|a chi
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| 100 |
1 |
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|a Shu, Jian-bo
|e verfasserin
|4 aut
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| 245 |
1 |
0 |
|a Mutation analysis of a family with 2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency
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| 264 |
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1 |
|c 2013
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| 336 |
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|a Text
|b txt
|2 rdacontent
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| 337 |
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|a ohne Hilfsmittel zu benutzen
|b n
|2 rdamedia
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| 338 |
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|a Band
|b nc
|2 rdacarrier
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| 500 |
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|a Date Completed 24.07.2014
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|a Date Revised 16.11.2017
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|a published: Print
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|a Citation Status MEDLINE
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|a 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
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| 520 |
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|a METHOD: 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
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|a RESULT: (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
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|a CONCLUSION: 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
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4 |
|a Case Reports
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|a Journal Article
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7 |
|a Acyl Coenzyme A
|2 NLM
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| 650 |
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|a 2-methylacetoacetyl-coenzyme A
|2 NLM
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| 650 |
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7 |
|a 6712-01-2
|2 NLM
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| 650 |
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7 |
|a 3-Hydroxyacyl CoA Dehydrogenases
|2 NLM
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| 650 |
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7 |
|a EC 1.1.1.-
|2 NLM
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| 650 |
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|a HSD17B10 protein, human
|2 NLM
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| 650 |
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7 |
|a EC 1.1.1.35
|2 NLM
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| 650 |
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|a Acetyl-CoA C-Acetyltransferase
|2 NLM
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| 650 |
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7 |
|a EC 2.3.1.9
|2 NLM
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| 700 |
1 |
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|a Zhang, Yu-qin
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Jiang, Shu-zhen
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Zhang, Chun-hua
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Meng, Ying-tao
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Wang, Hong
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Song, Li
|e verfasserin
|4 aut
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| 773 |
0 |
8 |
|i Enthalten in
|t Zhonghua er ke za zhi = Chinese journal of pediatrics
|d 1960
|g 51(2013), 10 vom: 09. Okt., Seite 783-6
|w (DE-627)NLM136249191
|x 0578-1310
|7 nnns
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| 773 |
1 |
8 |
|g volume:51
|g year:2013
|g number:10
|g day:09
|g month:10
|g pages:783-6
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|a AR
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|d 51
|j 2013
|e 10
|b 09
|c 10
|h 783-6
|