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Nature 519(7542):237-41

5-Oxoprolinase deficiency Disease name 5-Oxoprolinase deficiency (OMIM 260005) Definition and diagnostic criteria 5-Oxoprolinase deficiency is a very rare autosomal recessive disease characterized by 5-oxoprolinuria and very heterogeneous clinical presentation (renal stone formation, enterocolitis, mental retardation, neonatal hypoglycemia, microcytic anemia and microcephaly)

For the clinician , it represents something even more profound: The opportunity to guide transformation not merely manage numbers

Treatment of MTHFR also needs to be directed towards toxin control if the body is strong enough to handle it

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