Mutation of ornithine transcarbamylase (H136R) in a girl with severe intermittent orotic aciduria but normal enzyme activity View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

1997-08

AUTHORS

S. Vella, F. Steiner, V. Schlumbom, R. Zurbrügg, U. N. Wiesmann, T. Schaffner, B. Wermuth

ABSTRACT

Ornithine transcarbamylase deficiency shows X-linked inheritance with partial dominant expression in carrier females. We studied a girl with intermittent severe orotic aciduria and mild hyperammonaemia despite apparently normal enzyme activity in the liver. Sequence analysis of all 10 exons of the ornithine transcarbamylase gene revealed a novel A-->G exchange (A502G) in exon 5 which changes His-136 to arginine in the ornithine transcarbamylase protein. Km values for carbamyl phosphate and ornithine determined in the patient's liver were comparable to those of wild-type enzyme but, unlike the wild-type enzyme, the mutant enzyme was unstable upon freezing and thawing. Electron microscopy revealed several giant mitochondria with paracrystalline inclusions. The results are compatible with the assumption that the mutant enzyme cannot form a functional complex with carbamyl phosphate synthetase and the ornithine carrier, resulting in decreased availability of substrates and diminished enzyme activity in vivo. More... »

PAGES

517-524

Identifiers

URI

http://scigraph.springernature.com/pub.10.1023/a:1005397329395

DOI

http://dx.doi.org/10.1023/a:1005397329395

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1024603680

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/9266387


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