HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS		QUICK SEARCH:   [advanced] Author: Keyword(s): Year:  Vol:  Page:

This Article Full Text (PDF) Correspondence: Submit a response Alert me when this article is cited Alert me when Correspondence are posted Alert me if a correction is posted Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Citing Articles Citing Articles via HighWire Citing Articles via Google Scholar Google Scholar Articles by Sugie, H. Articles by Igarashi, Y. Search for Related Content PubMed PubMed Citation Articles by Sugie, H. Articles by Igarashi, Y.

Infantile muscle glycogen storage disease

Phosphoglucomutase deficiency with decreased muscle and serum carnitine levels

From the Department of Pediatrics, Hamamatsu University School of Medicine, Hamamatsu, Japan.

We report a 5-month-old boy with recurrent vomiting, lethargy, and poor weight gain. He had profound metabolic acidosis and nonketotic dicarboxylic aciduria. The serum and muscle carnitine levels were significantly low (60% and 10% of the control means, respectively), suggesting that the patient had a systemic carnitine deficiency syndrome. The patient showed apparent clinical improvement on oral carnitine administration. A quadriceps muscle biopsy revealed a slight increase in intrafiber lipid droplets and mild accumulation of glycogen in the subsarcolemmal portion. An anaerobic glycolysis in vitro study showed a block after glucose-1-phosphate and before glucose-6-phosphate. Direct measurement of individual glycolytic enzymes in muscle of the patient demonstrated a marked decrease in phosphoglucomutase (PGM) activity (13% of the control mean). The specific defect of PGM activity in this patient suggests that the block in the anaerobic glycolytic pathway is the primary abnormality. PGM deficiency can be added as a newly recognized cause of secondary systemic carnitine deficiency syndromes.

Address correspondence and reprint requests to Dr. Sugie, Department of Pediatrics, Hamamatsu University School of Medicine, 3600 Handa-cho, Hamamatsu 431-31, Japan.

Supported in part by grant no. 85-07-43 from the National Center for Nervous, Mental and Muscular Disorders (NCNMMD) of the Ministry of Health and Welfare, Japan.

Received March 17, 1987. Accepted for publication in final form July 29, 1987.

This article has been cited by other articles:

				T. Arimura, N. Inagaki, T. Hayashi, D. Shichi, A. Sato, K. Hinohara, M. Vatta, J. A. Towbin, T. Chikamori, A. Yamashina, et al. Impaired binding of ZASP/Cypher with phosphoglucomutase 1 is associated with dilated cardiomyopathy Cardiovasc Res, July 1, 2009; 83(1): 80 - 88. [Abstract] [Full Text] [PDF]

				B. C. Verrelli and W. F. Eanes The Functional Impact of Pgm Amino Acid Polymorphism on Glycogen Content in Drosophila melanogaster Genetics, September 1, 2001; 159(1): 201 - 210. [Abstract] [Full Text] [PDF]