Literature DB >> 711502

Hyperornithinemia and gyrate atrophy of choroid and retina. Report of a case.

G Stoppoloni, F Prisco, R Santinelli, C Tolone.   

Abstract

A case of hyperornithinemia and gyrate atrophy of choroid and retina has been observed in a 3-year and 9-month-old girl. She presented also mild mental retardation, delayed language development and speech defects. The restriction of protein intake to a minimum of 0.8 g/kg/day induced a significant reduction of plasma ornithine levels. In some of the previous reports of the syndrome, a deficient ornithine-ketoacid transaminase activity has been found in cultured fibroblasts.

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Year:  1978        PMID： 711502

Source DB:  PubMed          Journal:  Helv Paediatr Acta        ISSN： 0018-022X


  7 in total

1.  Effect of pH on spectral characteristics of P5C-ninhydrin derivative: Application in the assay of ornithine amino transferase activity from tissue lysate.

Authors:  H Ravikumar; K S Devaraju; K Taranath Shetty
Journal:  Indian J Clin Biochem       Date:  2008-06-11

2.  Late onset of cystinuria in a case of gyrate atrophy.

Authors:  P D'Eufemia; O Giardini; F Prisco; M Celli; R Finocchiaro; F Martino; G Stoppoloni
Journal:  J Inherit Metab Dis       Date:  1993       Impact factor: 4.982

3.  Low-protein diet and progression of retinal degeneration in gyrate atrophy of the choroid and retina: a twenty-six-year follow-up.

Authors:  R Santinelli; C Costagliola; C Tolone; A D'Aloia; A D'Avanzo; F Prisco; L Perrone; E Miraglia del Giudice
Journal:  J Inherit Metab Dis       Date:  2004       Impact factor: 4.982

4.  Gyrate atrophy of the choroid and retina with hyperornithinemia: biochemical and histologic studies and response to vitamin B6.

Authors:  N G Kennaway; R G Weleber; N R Buist
Journal:  Am J Hum Genet       Date:  1980-07       Impact factor: 11.025

Review 5.  Gyrate atrophy of the choroid and retina. Approaches to therapy.

Authors:  R G Weleber; N G Kennaway; N R Buist
Journal:  Int Ophthalmol       Date:  1981-08       Impact factor: 2.031

6.  The retarded hair growth (rhg) mutation in mice is an allele of ornithine aminotransferase (Oat).

Authors:  Jason J Bisaillon; Legairre A Radden; Eric T Szabo; Samantha R Hughes; Aaron M Feliciano; Alex V Nesta; Belinda Petrovic; Kenneth M Palanza; Dainius Lancinskas; Theodore A Szmurlo; David C Artus; Martin A Kapper; James P Mulrooney; Thomas R King
Journal:  Mol Genet Metab Rep       Date:  2014

7.  Metabolic follow-up of a Croatian patient with gyrate atrophy and a new mutation in the OAT gene: a case report.

Authors:  Marija Zekušić; Ana Škaričić; Ksenija Fumić; Dunja Rogić; Tamara Žigman; Danijela Petković Ramadža; Nenad Vukojević; Véronique Rüfenacht; Valentina Uroić; Ivo Barić
Journal:  Biochem Med (Zagreb)       Date:  2018-10-15       Impact factor: 2.313
  7 in total

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