Journal of Inherited Metabolic Disease · 2004 · 12 citations · 2 references
Life SciencesGeneticsMolecular GeneticsEnzymologyHuman GeneticsMedical GeneticsEnzyme DeficienciesGenetic DisordersInborn Errors Of MetabolismMetabolic Pathway DefectsCarbamoyl Phosphate Synthetase I DeficiencyEnzyme Deficiency DisordersMutational Spectrum Analysis
We describe the results of mutational analysis of the carbamoylphosphate synthetase I (CPSI) gene in three nonconsanguineous patients with CPSI deficiency. Compound heterozygotes of 3422T/G (V1141G) plus 3784C/T (R1262X), 1528delG (510-514 ARQLX) plus 2752T/C (S918P), and 2549G/A (R850H) plus 2797delT (L933X) were identified through genomic analysis; however, the 2797delT (L933X) mutation was not detected in cDNA analysis using biopsied liver, suggesting that mRNA expression rom this mutant allele is absent or markedly low.
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