Please use this identifier to cite or link to this item: http://hdl.handle.net/11455/60449
標題: Genetic and biochemical study in a patient with glutaric acidemia type I
作者: Lin, W.D.
賴建成
Wang, C.H.
Lai, C.C.
Lee, C.C.
Tsai, F.J.
關鍵字: amino acid metabolism, inborn errors
glutarates
mutation
oxidoreductases
tandem mass-spectrometry
aciduria type-i
inborn-errors
dehydrogenase
mutations
metabolism
diagnosis
acids
期刊/報告no:: Journal of the Formosan Medical Association, Volume 103, Issue 7, Page(s) 549-554.
摘要: Glutaryl-CoA dehydrogenase (GCDH) deficiency causes glutaric academia type I (GA-I), an inborn error of metabolism that is characterized clinically by dystonia and dyskinesia and pathologically by neural degeneration of the caudate nucleus and putamen. We report a case of GA-I in a 4-year-old boy. Analysis of blood acylcarnitines by tandem mass spectrometry (MS/MS) revealed a high concentration of glutarylcarnitine in the blood (0.59 muM). Organic acid analysis of urine via gas chromatography mass spectrometry revealed glutaric, acid and 3-hydroxyglutaric acids. In order to search for mutations, the GCDH gene of the patient and his parents were amplified by polymerase chain reaction and subjected to direct sequencing. Two mutations were detected in the patient's GCDH gene. One was located in exon 7 (T713C), which caused a codon 238 leucine to proline substitution; the other was located in intron 10 (IVS10-2 A-to-C), and caused a splicing variation in intron 10 and exon 11. Genetic amniocentesis was requested when the patient's mother became pregnant again, but the fetus did not carry any mutation. Tandem mass spectrometry was successfully used to make the diagnosis of GA-I in this case via identification of genetic mutation. If GA-I can be diagnosed in the early onset or presymptomatic stage, effective therapy would reduce sequelae.
URI: http://hdl.handle.net/11455/60449
ISSN: 0929-6646
Appears in Collections:分子生物學研究所

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