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.

journal_name

Neurology

journal_title

Neurology

authors

Bruno C,Minetti C,Shanske S,Morreale G,Bado M,Cordone G,DiMauro S

doi

10.1212/wnl.50.1.296

subject

Has Abstract

pub_date

1998-01-01 00:00:00

pages

296-8

issue

1

eissn

0028-3878

issn

1526-632X

journal_volume

50

pub_type

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