Combined defects of muscle phosphofructokinase and AMP deaminase in a child with myoglobinuria

C. Bruno, C. Minetti, S. Shanske, G. Morreale, M. Bado, G. Cordone, S. Dimauro

Research output: Contribution to journalArticlepeer-review

Abstract

A 14-year-old boy with exercise-related myalgia and cramps had several episodes of myoglobinuria since early childhood. An episode at 2 years of age caused acute renal failure. Histochemical and biochemical analysis of muscle showed a combined defect of phosphofructokinase (PFK) and adenosine monophosphate (AMP) deaminase. DNA analysis showed that the patient was homozygous for a G-to-C substitution at codon 39 of the PFK gene (previously described in an Italian patient) and for the common mutation found in AMP deaminase deficiency.

Original languageEnglish
Pages (from-to)296-298
Number of pages3
JournalNeurology
Volume50
Issue number1
Publication statusPublished - Jan 1998

ASJC Scopus subject areas

  • Neuroscience(all)

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