La asesoría genética puede ayudar a los futuros padres con antecedentes familiares de deficiencia de piruvatocinasa. El diagnóstico de las personas portadoras del gen a menudo se puede hacer encontrando una disminución en la actividad de la piruvatocinasa en los glóbulos rojos.
Segel GB. Enzymatic Defects. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF. Kliegman: Nelson Textbook of Pediatrics. 18th ed. Philadelphia, Pa: Saunders Elsevier; 2007: chap 463.
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