[P1-197] A Chinese girl with glutathione synthetase deficiency and two novel mutations on her GSS gene
[Objective] Glutathione synthetase (GSS) deficiency is a rare autosomal recessive disorder caused by GSS gene (OMIM 601002) mutations. In this study, the clinical and genetic features of a Chinese girl with 5-oxoprolinuria due to glutathione synthetase deficiency were investigated. [Methods] The patient had hypersomnia, dyspnea, poor feeding, jaundice, and hypotonia after birth. Pneumonia, severe metabolic acidosis with high anion gap, hemolytic anemi, and hyperbilirubinemia were found. Her urine 5-oxoproline was extremely elevated. The blood free carnitine was decreased significantly. On her GSS gene, two novel mutations, c.491G>A and c.446_447del, were identified. Unfortunately, she died from multiple organs failure at the 16th days of life. [Conclusions] GSS deficiency is a severe disorder of organic acidurias. The patients with early onset usually presented with severe metabolic acidosis, hemolytic anemia, jaundice, encephalopathy and died in multiple organs failure in the neonatal period. Urine organic acids analysis and gene study are keys for the diagnosis.
The firsrt two authers contributed equally to this paper.
The firsrt two authers contributed equally to this paper.