A case of phosphoglucomutase deficiency with decreased muscle and serum carnitine.

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We reported a 3-month-old male with recurrent vomiting, lethargic tendency and poor body weight gain. There was neither consanguinity nor family history of any metabolic disorders. On admission remarkable metabolic acidosis was noticed in blood gas examination with the association of nonketotic dicarboxylic aciduria. Serum and muscle carnitine levels were significantly low (60% and 10% of the control mean, respectively), suggesting that the patient had a systemic carnitine deficiency. Quadriceps mucle histochemistry revealed a slight increase of intrafiber lipid droplets and a marked accumulation of glycogen in the subsarcolemmal region. An in vitro study of anaerobic glycolysis showed a block after glucose-l-phosphate and before glucose-6-phosphate. Direct measurement of individual glycolytic enzymes in the muscle of the patient demonstrated a marked decrease of phosphoglucomutase (PGM) activity (13% of the control mean). The coincidental association of two rare conditions such as PGM deficiency and systemic carnitine deficiency is unlikely. The specific enzyme deficiency of PGM in this patient suggests that the block in an anaerobic glycolysis is the primary abnormality. Therefore carnitine deficiency is regarded as the secondary condition. PGM deficiency should be added as a newly recognized cause of the secondary carnitine deficiency syndrome.
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