title: Clinical features and new molecular findings in muscle phosphofructokinase deficiency (GSD type VII).
abstract: Muscle phosphofructokinase (PFKM) deficiency, a rare disorder of glycogen metabolism also known as glycogen storage disease type VII (GSDVII), is characterized by exercise intolerance, myalgias, cramps and episodic myoglobinuria associated with compensated hemolytic anaemia and hyperuricemia. We studied five patients with PFKM deficiency coming from different Italian regions. All probands showed exercise intolerance, hyperCKemia, cramps and myoglobinuria. One patient had a mild hypertrophic cardiomyopathy. Biochemical studies revealed residual PFK activity ranging from 1 to 5%. Molecular genetic analysis identified four novel mutations in the PFKM gene. In our series of patients, clinical and laboratory features were similar in all but one patient, who had an unusual phenotype characterized by 25 ears disease history, high CK levels, hypertrophic cardiomyopathy with paroxysmal atrial fibrillation without fixed muscle weakness.
authors: Department of Neurosciences, Psychiatry and Anaesthesiology University of Messina, Italy. omusumeci@unime.it
authors: Olimpia
authors: O
authors: Musumeci
authors: Claudio
authors: C
authors: Bruno
authors: Tiziana
authors: T
authors: Mongini
authors: Carmelo
authors: C
authors: Rodolico
authors: M'hammed
authors: M
authors: Aguennouz
authors: Emanuele
authors: E
authors: Barca
authors: Angela
authors: A
authors: Amati
authors: Denise
authors: D
authors: Cassandrini
authors: Luigi
authors: L
authors: Serlenga
authors: Giuseppe
authors: G
authors: Vita
authors: Antonio
authors: A
authors: Toscano
mesh_terms: D000293:Adolescent; D000328:Adult; D002312:Cardiomyopathy, Hypertrophic / Q000150:complications; D002648:Child; D005260:Female; D056726:Genetic Association Studies; D006014:Glycogen Storage Disease Type VII / Q000150:complications / Q000175:diagnosis* / Q000235:genetics*; D006801:Humans; D033461:Hyperuricemia / Q000150:complications; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D009212:Myoglobinuria / Q000150:complications; D010641:Phenotype