PMID: 6113726Jan 1, 1981Paper

5-oxoprolinuria due to hereditary 5-oxoprolinase deficiency in two brothers--a new inborn error of the gamma-glutamyl cycle

Acta paediatrica Scandinavica
A LarssonS K Wadman

Abstract

Two brothers, aged 16 and 11 years, had recurrent episodes of vomiting, diarrhoea and abdominal pain, starting in infancy. In spite of extensive investigations no cause of their enterocolitis could be established. After several years symptomatic treatment was discontinued without any recurrence of symptoms. Their father and several paternal relatives have had kidney stones. Both boys developed urolithiasis and an oxalate-containing stone was removed from the elder brother's kidney. He had no hypercalciuria. His glomerular and tubular function tests were normal. Gas chromatography of urine from both brothers revealed massive excretion of L-5-oxoproline (pyroglutamic acid). Glutathione levels in erythrocytes of both patients were normal. The activities of enzymes of the gamma-glutamyl cycle were analysed in erythrocytes, leukocytes and cultured skin fibroblasts. The level of glutathione synthetase was normal, as was the affinity of this enzyme for its substrate gamma-glutamyl-cysteine. Feedback inhibition of gamma-glutamyl-cysteine synthetase by glutathione was also normal. Both patients had a specific deficiency of 5-oxoprolinase, the activity of which was 2-4% of that of control subjects. Their parents had intermediate 5-oxopro...Continue Reading

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Citations

Jan 1, 1993·Journal of Inherited Metabolic Disease·M J HendersonP R Dear
Apr 3, 2007·Orphanet Journal of Rare Diseases·Ellinor Ristoff, Agne Larsson
Dec 12, 2007·Journal of Medical Toxicology : Official Journal of the American College of Medical Toxicology·Michael J HodgmanPatti M Carmel
May 3, 2019·Clinical Toxicology : the Official Journal of the American Academy of Clinical Toxicology and European Association of Poisons Centres and Clinical Toxicologists·Michael E MullinsDennis J Dietzen
Oct 12, 2019·Journal of Inherited Metabolic Disease·Lynne RumpingNanda M Verhoeven-Duif
Jan 1, 1990·Journal of Inherited Metabolic Disease·J J PittJ Christodoulou
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