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The diagnosis of 5-oxoprolinase deficiency is established by: Low activity of 5-oxoprolinase in nucleated cells such as leukocytes or cultured skin fibroblasts (5-oxoprolinase is not present in erythrocytes)

Tolerable upper intake level was set by the Institute of Medicine of the National Academy of Sciences of the United States as 400 g per day for adults (EFSA Panel on Dietetic Products Nutrition and Allergies (NDA), 2014)

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AA thanks pFIS fellowship (FI08/00385) from ISCIII and Andalucia Talent Hub Fellowship (TAHUB/II-004) cofunded by the Junta de Andalucia and the European Union, VII Framework Programme of the European Commission (grant agreement No