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

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

Istituto "Giannina Gaslini"

Research output: Contribution to journal › Article › peer-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 language	English
Pages (from-to)	296-298
Number of pages	3
Journal	Neurology
Volume	50
Issue number	1
Publication status	Published - Jan 1998

ASJC Scopus subject areas

Neuroscience(all)

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title = "Combined defects of muscle phosphofructokinase and AMP deaminase in a child with myoglobinuria",

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.",

author = "C. Bruno and C. Minetti and S. Shanske and G. Morreale and M. Bado and G. Cordone and S. Dimauro",

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T1 - Combined defects of muscle phosphofructokinase and AMP deaminase in a child with myoglobinuria

AU - Bruno, C.

AU - Minetti, C.

AU - Shanske, S.

AU - Morreale, G.

AU - Bado, M.

AU - Cordone, G.

AU - Dimauro, S.

PY - 1998/1

Y1 - 1998/1

N2 - 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.

AB - 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.

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