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.1147C>T(p.R383C), c.406G>T(p.G136C) and c.1169G>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.1169G>A(p.G390E) is likely pathogenic mutations for GA I patients from Fujianarea. Early screening of neonatal metabolic diseases is crucial for such patients.
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http://dx.doi.org/10.3760/cma.j.issn.1003-9406.2018.05.008 | DOI Listing |
BMC Genomics
December 2024
Test Station for Grassland Improvement, Xining, 812199, China.
Background: Meat quality in yak is influenced by the fluctuation of nutritional composition in different grazing seasons on the Qinghai-Tibetan Plateau. However, the molecular mechanism underlying in yak meat remains unknown. Therefore, this study aimed to investigate the seasonal dynamics of meat quality in yak by transcriptomics and metabolomics techniques.
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December 2024
Prenatal Diagnosis Center, Urumqi Maternal and Child Health Hospital, Urumqi, Xinjiang Uygur Autonomous Region, China.
To determine the disease spectrum and genetic characteristics of inborn errors of metabolism (IEM) in Xinjiang province in the northwest of China, 41,690 newborn babies were screening by tandem mass spectrometry from November 2018 to December 2021. Of these, 57 newborn babies were referred for genetic analysis by next-generation sequencing, which was validated by Sanger sequencing. A total of 36 newborn babies and one relative were diagnosed with IEM, and the overall positive predictive value was 29.
View Article and Find Full Text PDFInt J Mol Sci
October 2024
Molecular Genetics Thalassemia Department, The Cyprus Institute of Neurology and Genetics, Nicosia 2371, Cyprus.
Chembiochem
December 2024
Department of Pharmaceutical Sciences, Faculty of Science, Utrecht University, David De Wied building, Universiteitsweg 99, 3584 CG, Utrecht, NL.
Crotonyl-CoA (cr-CoA) is a metabolite derived directly from the catabolism of lysine (Lys) and tryptophan (Trp) or from the β-oxidation of fatty acids. In glioblastoma stem cells (GSCs), histone H4 crotonylation levels are significantly elevated, which appears to positively correlate with tumor growth. This increase in crotonyl-CoA production is attributed to the overexpression of specific Lys transporters on the cell membrane, leading to higher free lysine levels.
View Article and Find Full Text PDFCureus
July 2024
Pediatrics, Dr. D. Y. Patil Medical College, Hospital and Research Centre, Dr. D. Y. Patil Vidyapeeth (Deemed to be University), Pune, IND.
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