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. 1996 Aug;33(8):645–648. doi: 10.1136/jmg.33.8.645

Phenotypic variability in male patients carrying the mutant ornithine transcarbamylase (OTC) allele, Arg40His, ranging from a child with an unfavourable prognosis to an asymptomatic older adult.

I Matsuda 1, T Matsuura 1, A Nishiyori 1, S Komaki 1, R Hoshide 1, T Matsumoto 1, M Funakoshi 1, K Kiwaki 1, F Endo 1, A Hata 1, M Shimadzu 1, M Yoshino 1
PMCID: PMC1050697  PMID: 8863155

Abstract

In five different Japanese families, we identified six male hemizygotes (aged 6, 9, 15, 17, 56, and 65 years) and a putative candidate (aged 48 years), carrying a mutant allele of the ornithine transcarbamylase (OTC) gene, a G to A substitution at nucleotide 119 in exon 2 generating histidine in place of arginine. OTC activity in the necropsied liver tissue was reduced to approximately 12% of the control and that of COS 1 cells transfected with Arg40His OTC cDNA was 10.2 +/- 1.8% of the control transfected with wild type OTC cDNA. Clinical features ranged from death during a hyperammonaemic attack (a 9 year old) to a 65 year old asymptomatic man. We consider that the amount of protein ingested by these subjects may be one predisposing factor leading to the manifestation of this disease.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

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