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January 1967

Hypersarcosinemia: A Newly Described Inborn Error of Metabolism

Author Affiliations

From the Department of Pediatrics, University of Wisconsin, Madison, Wis.

Am J Dis Child. 1967;113(1):134-137. doi:10.1001/archpedi.1967.02090160184029

THE PRESENCE of excessive or markedly decreased amounts of any substance in body fluids in children having mental retardation does not necessarily mean that the retardation is caused by the disordered metabolism in the chemistry of that substance. The fact that these substances do occur in the retarded child, however, is suggestive evidence that the abnormal substance may indeed influence the developing brain and nervous system and therefore the intellectual development of the child. In discussing treatment of amino-acid disorders, one might very well ask if there is any value in decreasing the amounts of an abnormal substance in the urine or in the blood of a patient with a specific disease. We simply do not know enough about this. While we have much biochemical data about some of the inborn errors which cause unique signs and symptoms, this information may not be applicable to other diseases.

In hypersarcosinemia we

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