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5-oxoprolinase deficiency

Known as: OPLAHD, 5-alpha-oxoprolinase deficiency, OXOPROLINURIA DUE TO 5-OXOPROLINASE DEFICIENCY 
 
National Institutes of Health

Papers overview

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2015
2015
OBJECTIVE 5-Oxoprolinuria is a rare inherited metabolic disorder caused by a defective gamma-glutamyl cycle resulting from… Expand
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2014
2014
AbstractInherited 5-oxoprolinase (OPLAH) deficiency is a rare inborn condition characterised by 5-oxoprolinuria. To date, three… Expand
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2014
2014
Abstract High anion gap metabolic acidosis due to pyroglutamic acid (5-oxoproline) is a rare complication of acetaminophen… Expand
2012
2012
Almaghlouth IA, Mohamed JY, Al‐Amoudi M, Al‐Ahaidib L, Al‐Odaib A, Alkuraya FS. 5‐Oxoprolinase deficiency: report of the first… Expand
2004
2004
We describe a case of 5-oxoprolinase deficiency that was diagnosed during the neonatal period. The child was a male infant born… Expand
1999
1999
  • E. Mayatepek
  • European Journal of Pediatrics
  • 1999
  • Corpus ID: 35480269
Abstract In patients with defects in the synthesis, breakdown and metabolism of glutathione (GSH), like glutathione synthetase… Expand
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1999
1999
Pyroglutamic aciduria (5‐oxoprolinuria) is a rare autosomal recessive disorder caused by either glutathione synthetase deficiency… Expand
1999
1999
  • E. Mayatepek
  • European journal of pediatrics
  • 1999
  • Corpus ID: 2165952
UNLABELLED In patients with defects in the synthesis, breakdown and metabolism of glutathione (GSH), like glutathione synthetase… Expand
Review
1998
Review
1998
In the gamma-glutamyl cycle, hereditary defects have been described in four of the six enzymes namely: gamma-GC synthetase; GSH… Expand
1997
1997
Abstract Two female siblings, born to consanguineous parents, presented with a similar phenotype characterized by severe growth… Expand