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.
authors.affiliation: H. Houston Merritt Clinical Research Center for Muscular Dystrophy and Related Diseases, Department of Neurology, Columbia Presbyterian Medical Center, New York, NY 10032, USA.
authors.forename: C
authors.initials: C
authors.lastname: Bruno
authors.forename: C
authors.initials: C
authors.lastname: Minetti
authors.forename: S
authors.initials: S
authors.lastname: Shanske
authors.forename: G
authors.initials: G
authors.lastname: Morreale
authors.forename: M
authors.initials: M
authors.lastname: Bado
authors.forename: G
authors.initials: G
authors.lastname: Cordone
authors.forename: S
authors.initials: S
authors.lastname: DiMauro
mesh_terms: D000659:AMP Deaminase / Q000235:genetics*; D000293:Adolescent; D001706:Biopsy; D004252:DNA Mutational Analysis; D006720:Homozygote; D006801:Humans; D008297:Male; D018482:Muscle, Skeletal / Q000201:enzymology / Q000473:pathology; D009154:Mutation; D009212:Myoglobinuria / Q000201:enzymology* / Q000235:genetics* / Q000473:pathology; D010732:Phosphofructokinase-1 / Q000235:genetics*; D016133:Polymerase Chain Reaction
chemical_list: D010732:Phosphofructokinase-1; D000659:AMP Deaminase