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Abstract Cystinotic patients have been shown to excrete in their urine high levels of pyroglutamate, an intermediate metabolite of the adenosine triphosphate (ATP)dependent -glutamyl cycle, which is responsible for glutathione (GSH) synthesis

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To meet the diagnostic criteria for mEDS, a person must meet: Major criterion 1 AND at least one other major criterion OR Major criterion 1 AND at least three minor criteria Major Criteria Congenital muscle hypotonia and/or muscle atrophy that improves with age Proximal joint contractures (knee, hip, and elbow) Hypermobility of distal joints Minor Criteria Soft, doughy skin Atrophic scarring Motor developmental delay Myopathy on muscle biopsy Periodontal EDS (pEDS) If a person meets the diagnostic criteria for pEDS, genetic testing should be done to confirm the diagnosis