COMBINED DEFECTS OF MUSCLE PHOSPHOFRUCTOKINASE AND AMP-DEAMINASE IN ACHILD WITH MYOGLOBINURIA

Authors
BRUNO C MINETTI C SHANSKE S MORREALE G BADO M CORDONE G DIMAURO S
Citation
C. Bruno et al., COMBINED DEFECTS OF MUSCLE PHOSPHOFRUCTOKINASE AND AMP-DEAMINASE IN ACHILD WITH MYOGLOBINURIA, Neurology, 50(1), 1998, pp. 296-298
Citations number
10
Categorie Soggetti
Clinical Neurology
Journal title
Neurology → ACNP
ISSN journal
00283878
Volume
50
Issue
1
Year of publication
1998
Pages
296 - 298
Database
ISI
SICI code
0028-3878(1998)50:1<296:CDOMPA>2.0.ZU;2-I
Abstract
A 14-year-old boy with exercise-related myalgia and cramps had several episodes of myoglobinuria since early childhood. An episode at 2 year s of age caused acute renal failure. Histochemical and biochemical ana lysis 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 th e PFK gene (previously described in an Italian patient) and for the co mmon mutation found in AMP deaminase deficiency.