Objective To explore clinical features and mutation types in patients from Fujian area with glutaric academia type Ⅰ（GA Ⅰ ）. Methods Serum acylcarnitine and urine organic acid of 3 patients were determined with tandem mass spectrometry and gas chromatographic mass spectrometry. The patients also underwent magnetic resonance imaging analysis for the cranial region. Genomic DNA was extracted from peripheral blood samples, and the 12 exons and flanking regions of the GCDH gene were amplified with PCR and subjected to direct DNA sequencing. One hundred healthy newborns were used as controls. Results Mutations of the GCDH gene were identified in all of the 3 patients. Two patients have carried compound heterozygous mutations including c. 1244-2A〉C and c. l147C〉T（p. R383C）, c. 406G〉T （p. G136C） and c. l169G〉A（p. G390E）, respectively. One has carried homozygous c. 1244-2A〉C mutation. The same mutations were not detected among the 100 healthy newborns. Only one patient received early intervention and did not develop the disease. The other two had irreversible damagesto their intelligence. Conclusion c. l169G〉A（p. G390E） is likely pathogenic mutations for GA Ⅰ patients from Fujianarea. Early screening of neonatal metabolic diseases is crucial for such patients.
Chinese Journal of Medical Genetics
Glutaric academia type Ⅰ
Glutaryl-CoA dehydrogenase gene