Hydroxyproline Metabolism in Type II Hyperprolinaemia
نویسندگان
چکیده
منابع مشابه
Fits, pyridoxine, and hyperprolinaemia type II.
The rare inherited disorder hyperprolinaemia type II presents with fits in childhood, usually precipitated by infection. A diagnosis of hyperprolinaemia type II and vitamin B(6) deficiency was made in a well nourished child with fits. It is thought that pyridoxine deficiency was implicated in her fits and was the result of inactivation of the vitamin by the proline metabolite, pyrroline-5-carbo...
متن کاملType II hyperprolinaemia in a pedigree of Irish travellers (nomads).
We describe a study of 312 subjects in 71 families near related to a proband with type II hyperprolinaemia. The subjects were Irish travellers (nomads) among whom consanguineous marriage and high fertility are common. Thirteen additional cases of type II hyperprolinaemia were discovered; all were offspring of consanguineous unions. A further 50 subjects were found to have mild hyperprolinaemia....
متن کاملLow proline diet in type I hyperprolinaemia.
Harries, J. T., Piesowicz, A. T., Seakins, J. W. T., Francis, D. E. M., and Wolff, 0. H. (1971). Archives of Disease in Childhood, 46, 72. Low proline diet in type I hyperprolinaemia. A diagnosis of Type I hyperprolinaemia was made in a 7-month-old infant who presented with hypocalcaemic convulsions and malabsorption. The plasma levels of proline were grossly raised and the urinary excretion of...
متن کاملRe: hydroxyproline metabolism in mouse models of primary hyperoxaluria.
Primary hyperoxaluria type 1 (PH1) and type 2 (PH2) are rare genetic diseases that result from deficiencies in glyoxylate metabolism. The increased oxalate synthesis that occurs can lead to kidney stone formation, deposition of calcium oxalate in the kidney and other tissues, and renal failure. Hydroxyproline (Hyp) catabolism, which occurs mainly in the liver and kidney, is a prominent source o...
متن کاملHydroxyproline metabolism in mouse models of primary hyperoxaluria
John Knight, Ross P. Holmes, Scott D. Cramer, Tatsuya Takayama, and Eduardo Salido Departments of Urology and Cancer Biology, Wake Forest University Health Sciences, Winston-Salem, North Carolina; Department of Pharmacology, University of Colorado, Denver, Anschutz Medical Campus, Aurora, Colorado; and Center for Biomedical Research on Rare Diseases, Hospital Universitario Canarias, Instituto T...
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ژورنال
عنوان ژورنال: Annals of Clinical Biochemistry: International Journal of Laboratory Medicine
سال: 1979
ISSN: 0004-5632,1758-1001
DOI: 10.1177/000456327901600143