Abstract
Genetic defects have been described in five of the six steps of the γ-glutamyl cycle. Glutathione-synthetase deficiency is the most frequently recognized disorder and, in its severe, generalized form, it is associated with hemolytic anemia, metabolic acidosis, 5-oxoprolinuria (pyroglutamic aciduria) and CNS damage. γ-Glutamyl-cysteine-synthetase deficiency is also associated with hemolytic anemia, and some patients with this disorder show defects of neuromuscular function and generalized aminoaciduria. γ-Glutamyl-transpeptidase deficiency has been found in patients with CNS involvement and glutathionuria. 5-0xoprolinase deficiency is associated with 5-oxoprolinuria but without a clear association with other symptoms. Finally, cysteinyl-glycinase (or-dipeptidase) deficiency has recently been identified in a patient with mental retardation, deafness and skeletal malformation. Serum carnosinase deficiency and homocarnosinosis are probably the same disorder. It is uncertain whether there is a relationship between the biochemical abnormalities and clinical symptoms. Prolidase deficiency causes skin lesions and recalcitrant ulceration (particularly on the lower legs) in addition to other features, such as impaired psychomotor development and recurrent infections. The severity of clinical expression is highly variable.
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Larsson, A., Jaeken, J. (2000). Disorders in the Metabolism of Glutathione and Imidazole Dipeptides. In: Fernandes, J., Saudubray, JM., Van den Berghe, G. (eds) Inborn Metabolic Diseases. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-662-04285-4_27
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DOI: https://doi.org/10.1007/978-3-662-04285-4_27
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