The phenotype of ostensibly healthy women who are carriers for ornithine transcarbamylase deficiency.

Article

The phenotype of ostensibly healthy women who are carriers for ornithine transcarbamylase deficiency.

Medicine - 1 Nov 1998

Maestri N E, Lord C, Glynn M, Bale A, Brusilow S W

Abstract excerpt

Ornithine transcarbamylase (OTC) deficiency is an X-linked disorder of urea synthesis. Among females who carry a mutant OTC allele, there is a wide range of phenotypic variability, ranging from apparent normality to a severe onset and the resulting profound neurologic impairment observed in hemiz...

Topics

Adult
Aged
Alanine
Amino Acid Metabolism, Inborn Errors
Female
Glutamine
Heterozygote
Humans
Middle Aged
Ornithine Carbamoyltransferase
Ornithine Carbamoyltransferase Deficiency Disease
Pedigree
Phenotype
Pregnancy
Risk Factors

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