Gyrate atrophy of the choroid and retina with hyperornithinemia: report of three cases and review of literature
KMJ-Kuwait Medical Journal. 2009; 41 (4): 341-345
Dans Anglais
| IMEMR
| ID: emr-102237
ABSTRACT
Hyperornithinemia associated with gyrate atrophy of the choroid and retina is a rare, autosomal recessive disorder resulting from a deficiency of the mitochondrial matrix enzyme, ornithine d- aminotransferase [OAT]. This enzyme catalyses the pyridoxal phosphate-dependent transamination of ornithine and glutamic acid. Over 150 biochemically documented cases have been reported out of which one-third are Finnish, We report three cases of this metabolic disorder in one family who was investigated for high myopia associated with degenerative the fundus. The diagnosis was made on clinical, changes in electrophysiological and biochemical features. Since a-ketoglutarate to D'-pyrroline this disorder can present in the pediatric age with 5-carboxylic acid and myopia, children presenting with degenerative myopia need to be investigated for this disorder
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Indice:
Méditerranée orientale
Sujet Principal:
Ornithine
/
Ornithine-oxo-acid transaminase
/
Rétinopathies
/
Atrophie
/
Littérature de revue comme sujet
/
Dipeptides
/
Aminoacidopathies congénitales
/
Mutation
Type d'étude:
Enquête cas-témoins / Études cas/témoins
Limites du sujet:
Femelle
/
Humains
/
Mâle
langue:
Anglais
Texte intégral:
Kuwait Med. J.
Année:
2009
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