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Orphanet References OMIM Gene GeneReviews HGMD HGNC
last update : 05-03-2011
Symbol GSS
Location 20q11.21
Name pyroglutamicaciduria
Other name(s) glutathione synthetase deficiency
Corresponding gene GSS
Main clinical features
  • severe form characterized by acute metabolic acidosis from the neonatal period, hemolytic anemia progressive encephalopathy and 5-oxyprolinuria
  • spastic tetraparesis and a cerebellar disorder with intention tremor and dysarthria
  • associated with progressive retinal dystrophy of the rod-cone type, affecting the central retina with advanced macular edema in adulthood (PMID:19111905))
  • Genetic determination autosomal recessive
    Related entries including moderate form with hemolytic anemia and metabolic acidosis
    Function/system disorder metabolism/aminoacids
    Type disease
    Gene product
    Name glutathione synthetase (GSS)
    Gene mutationChromosome rearrangementEffectComments
    frameshift   abnormal protein/loss of function  
    abnormal splicing   abnormal protein/loss of function