Glutathione synthetase deficiency

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Description from OMIM

Glutathione synthetase deficiency, or 5-oxoprolinuria, is an autosomal recessive disorder characterized, in its severe form, by massive urinary excretion of 5-oxoproline, metabolic acidosis, hemolytic anemia, and central nervous system damage. The metabolic defect results in decreased levels of cellular glutathione, which overstimulates the synthesis of gamma-glutamylcysteine and its subsequent conversion to 5-oxoproline (Larsson and Anderson, 2001).



Prevalence of clinical parameters (%)







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Number of patients in the reference Percent affected patients (Between 0 and 1, eg. 0.1 = 10%)
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List of symptoms



Symptom/sign Organ system Percent affected Pubmed id Added on(yyyy-mm-dd) Edit/add reference
Anemia circulatory 100 % 11445798 2014-05-09
Decreased GSH levels circulatory 100 % 11445798 2014-05-09
5-oxoprolinuria circulatory 96 % 11445798 2014-05-09
Metabolic acidosis circulatory 82 % 11445798 2014-05-09
Mental retardation nervous 36 % 11445798 2014-05-09
Seizures nervous 25 % 11445798 2014-05-09
Recurrent infections circulatory 18 % 11445798 2014-05-09
Ataxia nervous 14 % 11445798 2014-05-09
Dysarthria nervous 11 % 11445798 2014-05-09
Hypotonia nervous 7 % 11445798 2014-05-09
Retinitis pigmentosa nervous 7 % 11445798 2014-05-09
Hearing loss nervous 4 % 11445798 2014-05-09
Tremor nervous 4 % 11445798 2014-05-09



List of references:


Long-term clinical outcome in patients with glutathione synthetase deficiency.
E Ristoff, E Mayatepek, A Larsson,

The objective was to determine the long-term clinical outcome and the effects of treatment of patients with glutathione synthetase (GS) deficiency (n = 28).

The Journal of pediatrics - Jul 2001