Improvement of diagnostic yield in carbamoylphosphate synthetase 1 ( CPS1 ) molecular genetic investigation by RNA sequencing
نویسندگان
چکیده
منابع مشابه
Molecular characterization of carbamoyl-phosphate synthetase (CPS1) deficiency using human recombinant CPS1 as a key tool.
The urea cycle disease carbamoyl-phosphate synthetase deficiency (CPS1D) has been associated with many mutations in the CPS1 gene [Häberle et al., 2011. Hum Mutat 32:579-589]. The disease-causing potential of most of these mutations is unclear. To test the mutations effects, we have developed a system for recombinant expression, mutagenesis, and purification of human carbamoyl-phosphate synthet...
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The localization of carbamoylphosphate synthetase (CPSase) and aspartate carbamoyltransferase (ACTase), the first two enzymes of the pyrimidine biosynthetic pathway, in chloroplasts was investigated. In dark-grown radish (Raphanus sativus) seedlings, light induced a prominent increase in CPSase activity, but had little effect on ACTase activity. Both enzymes were found in chloroplasts isolated ...
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Carbamoyl phosphate synthetase 1 deficiency (CPS1D) is a rare autosomal recessive hereditary disease which usually presents as lethal hyperammonemia. Here we report the case of a newborn infant with lethal hyperammonemia. Blood liquid chromatography-tandem mass spectrometry (LC-MS/MS) analysis showed increased concentrations of alanine, glutamine and histidine. Urine gas chromatography-mass spe...
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ژورنال
عنوان ژورنال: JIMD Reports
سال: 2020
ISSN: 2192-8312,2192-8312
DOI: 10.1002/jmd2.12091