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September 1954

RIBOSURIA IN MUSCULAR DYSTROPHY

Author Affiliations

NEWCASTLE-UPON-TYNE, ENGLAND

From the Departments of Medicine and Chemical Pathology, King's College, University of Durham, in the Royal Victoria Infirmary, Newcastle-upon-Tyne, England.

AMA Arch NeurPsych. 1954;72(3):362-364. doi:10.1001/archneurpsyc.1954.02330030096011
Abstract

MINOT, Frank, and Dziewiatkowski1 in 1949 reported on the discovery of pentose- and phosphorus-containing complexes in the urine of patients with progressive muscular dystrophy. They found that when 8 to 10 drops of urine from a patient with a disorder of this type was heated in a boiling water bath for 45 minutes with 5 cc. of Benedict's qualitative solution, reduction was invariably obtained. The substance responsible for this reduction was identified as d-ribose, which is excreted as a phosphorus-containing complex. Orr and Minot2 suggested that this observation could be made the basis of a diagnostic test for muscular dystrophy. They examined specimens of urine from 26 cases of progressive muscular dystrophy of all types, from 6 of dystrophia myotonica, from 5 of myotonia congenita, and from 3 of amyotonia congenita and discovered ribose in all of them. On the other hand, a negative result was obtained

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