Precarious balance of nitrogen metabolism in women with a urea-cycle defect

Article Abstract:

An article in the June 7, 1990, issue of The New England Journal of Medicine reports a study of ammonia intoxication in women who are otherwise healthy. The women, several of whom were affected in the postpartum period, were carriers of a defect in the gene that controls the manufacture of ornithine carbamoyltransferase. This enzyme deficiency is known to be associated with sudden, often lethal, ammonia intoxication in apparently healthy male neonates and, occasionally, with less dramatically affected female infants and children. Besides drawing attention to the potential danger faced by female carriers of the mutation, the article raises important basic questions. Why, for instance, has ammonia intoxication not been reported in the many women who are carriers and who have borne children? An improved test for ornithine carbamoyltransferase deficiency is outlined in another article in the same issue. The test's sensitivity suggests that nitrogen homeostasis (balance) is normally finely balanced. Such a test could be administered to women with the genetic deficiency in their family backgrounds, as well as to those with some signs of hyperammonemia (high levels of ammonia in the blood), such as protein intolerance, lethargy or coma, and neurologic abnormalities. (Consumer Summary produced by Reliance Medical Information, Inc.)

Diagnosis, Testing, Genetic disorders, editorial, Ornithine transcarbamylase

---

A defect in the transport of long-chain fatty acids associated with acute liver failure

Article Abstract:

The case reports of two boys with liver failure illustrate the existence of a transport system for long-chain fatty acids. They both required a liver transplant, but biochemical analyses of blood samples failed to reveal any abnormality in fatty acid metabolism. However, biopsy samples of skin cells revealed such an abnormality in the metabolism of long-chain fatty acids. Short- and medium-chain fatty acids diffuse across cell membranes, but long-chain fatty acids require a transporter.

Health aspects, Case studies, Fatty acid metabolism, Metabolism, Inborn errors of, Inborn errors of metabolism

---

Access to the scientific literature--A difficult balance

Article Abstract:

Internet has provided opportunities by allowing scientific publications to be available to more readers than print journals ever reached. Experts believe that access to such publications should be broadened as far as possible and should be made available free of cost as they convey knowledge, however, economic implications of such a proposal need to be studied deeply.

United States, Electronic publishing, Electronic publication, Science publishing

Similar abstracts:

• Abstracts: Transient hyperprolactinemia in infertile women with luteal phase deficiency. Hyperprolactinemia and nonpuerperal mastitis (duct ectasia)
• Abstracts: How prevalent is cancer family syndrome? Insulinoma: cost-effective care in patients with a rare disease. Chromosome 11 allele loss in sporadic insulinoma
• Abstracts: Evidence of limited variability of antigen receptors on intrathyroidal T cells in autoimmune disease
• Abstracts: Cure of early-stage Hodgkin's disease with subtotal nodal irradiation. Night sweats in Hodgkin's disease: a manifestation of preceding minor febrile pulses
• Abstracts: Acute reactions to drugs of abuse. Drugs for intermittent claudication

This website is not affiliated with document authors or copyright owners. This page is provided for informational purposes only. Unintentional errors are possible.