PEDIATRICS Vol. 74 No. 4 October 1984, pp. 509-513
This Article
Right arrow Full Text (PDF)
Right arrow P3Rs: Submit a response
Right arrow Alert me when this article is cited
Right arrow Alert me when P3Rs are posted
Right arrow Alert me if a correction is posted
Services
Right arrow E-mail this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Add to My File Cabinet
Right arrow Download to citation manager
Right arrow reprints & permissions
Citing Articles
Right arrow Citing Articles via CrossRef
Right arrow Citing Articles via Google Scholar
Google Scholar
Right arrow Articles by Levy, H. L.
Right arrow Articles by Benjamin, R.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Levy, H. L.
Right arrow Articles by Benjamin, R.

Massachusetts Metabolic Disorders Screening Program: III. Sarcosinemia

Harvey L. Levy MD1, J. Thomas Coulombe BA, MPH1, and Rachel Benjamin MB1

1 From the State Laboratory Institute, Massachusetts Department of Public Health; Department of Neurology, Harvard Medical School; The Joseph P. Kennedy, Jr Laboratories of the Neurology Service, Massachusetts General Hospital; and Children's Hospital, Boston

Sarcosinemia has been detected by routine screening of urine for metabolic and transport disorders in Massachusetts. Three infants who had sarcosinemia were detected through the neonatal urine specimen, an observed incidence of 1:350,000. A fourth child had sarcosinemia detected through family screening after his brother was found to have Hartnup disease by neonatal urine screening. These four children with sarcosinemia have plasma sarcosine concentrations ranging from 80 to 603 µmol/L and urine sarcosine from 2.1 to 9.4 µmol/mg of creatinine, findings similar to those reported for persons with sarcosinemia. No treatment has been given. At 3.8 to 15 years of age, the children had normal findings on physical examination and had no specific illnesses. Their full-scale IQ scores ranged from 89 to 111. The oldest child had a learning and emotional disorder, and one other child was emotionally unstable. It was concluded that sarcosinemia as a specific disorder is probably benign and that the mental retardation and dysmorphic features described in some affected persons are likely coincidental with the biochemical defect. The emotional disturbances that were encountered in two children are also probably coincidental but need further attention in this disorder.

Key Words: sarcosinemia • sarcosinuria • urine screening • sarcosine • newborn screening

Submitted on August 11, 1983
Accepted on November 16, 1983