Prenatal Counseling in Heterozygotes for Ornithine Transcarbamylase Deficiency

X-linked ornithine transcarbamylase deficiency (OTCD) often leads to fatal neonatal hyperammonemia in affected males (hemizygotes). In prenatal management of subsequent pregnancies, families carrying female fetuses are often reassured of the low risk of clinically overt disease. We suggest that such...

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Bibliographic Details
Published in:Clinical pediatrics 1994-09, Vol.33 (9), p.525-529
Main Authors: Fries, Melissa H., Kuller, Jeffrey A., Jurecki, Elaina, Packman, Seymour
Format: Article
Language:English
Subjects:
Adolescent
Amino Acid Metabolism, Inborn Errors - blood
Amino Acid Metabolism, Inborn Errors - genetics
Amino Acid Metabolism, Inborn Errors - prevention & control
Aminoacid disorders
Ammonia - blood
Biological and medical sciences
Child
Child, Preschool
Errors of metabolism
Female
Fetal Diseases - genetics
Fetal Diseases - prevention & control
Genetic Counseling
Genetic Linkage
Heterozygote
Humans
Medical sciences
Metabolic diseases
Ornithine Carbamoyltransferase - blood
Ornithine Carbamoyltransferase Deficiency Disease
Pedigree
Pregnancy
Prenatal Diagnosis
Risk Factors
X Chromosome
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Summary:X-linked ornithine transcarbamylase deficiency (OTCD) often leads to fatal neonatal hyperammonemia in affected males (hemizygotes). In prenatal management of subsequent pregnancies, families carrying female fetuses are often reassured of the low risk of clinically overt disease. We suggest that such reassurance may be misleading. While OTCD heterozygotes may show no symptoms or only mild protein intolerance, the clinical course in a fraction of children can include manifestations similar to those in affected males. We present three cases of symptomatic and previously undiagnosed OTCD heterozygotes to illustrate the potential severity of this condition. Significant improvement in function and growth followed diagnosis and treatment; however, two of the three children remain significantly developmentally delayed. While a quantitative risk estimate cannot be derived from these data, the cases are indicative of an adverse outcome in manifesting heterozygotes. Accordingly, OTCD carrier families should be counseled regarding the possibility of significant hyperammonemia, neurologic deficit, and the need for pharmacologic and dietary intervention in their heterozygote daughters.
ISSN:0009-9228
1938-2707
DOI:10.1177/000992289403300903