Two novel CPS1 mutations in a case of carbamoyl phosphate synthetase 1 deficiency causing hyperammonemia and leukodystrophy

ConclusionThis study described the specific clinical characteristics and the variations of physiological and biochemical indices in a Chinese neonatal patient with CPS1D, which facilitated the diagnosis and mechanism research of the disease. Two novel causative missense mutations were identified, which enriched the mutation spectrum of CPS1D in China and worldwide. Advice of prenatal diagnosis was given to the family for a new pregnancy.

Source: Journal of Clinical Laboratory Analysis - November 1, 2017 Category: Laboratory Medicine Authors: Xihui Chen, Lijuan Yuan, Mao Sun, Qingbo Liu, Yuanming Wu Tags: RESEARCH ARTICLE Source Type: research