Mild glutathione synthetase deficiency usually results in the destruction of red blood cells (hemolytic anemia). Rarely, affected people also excrete large amounts of a compound called 5-oxoproline (also called pyroglutamic acid, or pyroglutamate) in their urine (5-oxoprolinuria). This compound builds up when glutathione is not processed correctly in cells. Individuals with moderate glutathione synthetase deficiency may experience symptoms beginning shortly after birth including hemolytic anemia, 5-oxoprolinuria, and elevated acidity in the blood and tissues (metabolic acidosis). In addition to the features present in moderate glutathione synthetase deficiency, individuals affected by the severe form of this disorder may experience neurological symptoms. These problems may include seizures; a generalized slowing down of physical reactions, movements, and speech (psychomotor retardation); intellectual disability; and a loss of coordination (ataxia). Some people with severe glutathione synthetase deficiency also develop recurrent bacterial infections. Treatment
As of 2018, there is no cure for GSD, and treatment is restricted to manage symptoms and associated problems. Thus, sodium bicarbonate is recommended to treat metabolic acidosis, and antioxidants, among them vitamins E and C, can reduce oxidative damage. References
Further reading
Glutathione synthetase deficiency at NLM Genetics Home Reference
Beutler, E; Gelbart, T; Pegelow, C (1986). "Erythrocyte glutathione synthetase deficiency leads not only to glutathione but also to glutathione-S-transferase deficiency". Journal of Clinical Investigation. 77 (1): 38–41. doi:10.1172/JCI112298. PMC 423305. PMID 3944259. == External links ==
Encephalomyelitis is inflammation of the brain and spinal cord. Various types of encephalomyelitis include:

Acute disseminated encephalomyelitis or postinfectious encephalomyelitis, a demyelinating disease of the brain and spinal cord, possibly triggered by viral infection. Encephalomyelitis disseminata, a synonym for multiple sclerosis. AntiMOG associated encephalomyelitis, one of the underlying conditions for the phenotype neuromyelitis optica and in general all the spectrum of MOG autoantibody-associated demyelinating diseases. Eastern equine encephalitis, Japanese encephalitis, Venezuelan equine encephalitis, and Western equine encephalitis: a group of viral illnesses that can affect horses and humans; collectively termed Equine encephalitis. Experimental autoimmune encephalomyelitis (EAE), an animal model of brain inflammation. Progressive encephalomyelitis with rigidity and myoclonus  (PERM) – A kind of stiff person syndrome. AIDS-related encephalomyelitis, caused by opportunistic Human T-lymphotropic virus type III (HTLV-III) infection. See also
Chronic fatigue syndrome, sometimes called myalgic encephalomyelitis. References


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