Glutathione synthetase deficiency: a novel mutation with femur agenesis.

Glutathione synthetase (GSS) deficiency is an autosomal recessive disorder (frequency < 1/1,000,000) with different varyingly severe clinical manifestations that include metabolic acidosis, hemolytic anemia, hyperbilirubinemia, neurological disorders and sepsis. This infant was small for gestational age, had hemolytic anemia, metabolic acidosis, bilateral subependymal pseudocysts and increased echogenicity of the basal ganglia. GSS deficiency was confirmed by genetic analysis. The patient also had unilateral right femur agenesis. By using next generation sequencing analysis, we identified a novel homozygous variant c.800G > A, p.Arg267Gln in the gene of this patient. Femur agenesis had not previously been associated with GSS.