Disease Information for Phosphofructokinase def/GSD VII (Tarui)

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Clinical Manifestations
Signs & Symptoms
Bilateral Calf Pains
Cramping in Extremities
Exertional Muscle Pain
Leg cramps/muscle spasm/pains
Muscle contractures/signs
Muscle cramps/spasms
Muscle Pain
Muscle pains/exercise induced
Myalgias
Fatigability
Limb weakness/signs
Spasms in Both Legs
Post-exercise gross hematuria
Decreased exercise tolerance/effort fatigue
Fatigue
Fatigue Tiredness Exhaustion
Fatigue Tiredness in Children
Poor Stamina
Disease Progression
Course/Chronic disorder
Course/Chronic only
Demographics & Risk Factors
Population Group
Child
Population/Pediatrics population
Sex & Age Groups
Population/Child
Population/Child-Infant Only
Population/Children/all
Laboratory Tests
Microbiology & Serology Findings
Reticulocytosis
Abnormal Lab Findings (Non Measured)
Enzyme Assay plasma/tissue/fibroblast abnormal
RBC Specific Enzyme assay abnormal (Lab)
Abnormal Lab Findings - Increased
Bilirubin, serum (Lab)
CPK/CK/Creatine kinase/Creatine phosphokinase (Lab)
Indirect bilirubin (Lab)
Myoglobin
Polychrome RBCs (Lab)
Reticulocytes (Lab)
Uric acid, serum (Lab)
URINE Myoglobin
Diagnostic Test Results
Other Tests & Procedures
TEST/Flat lactate response/Cuff tight repeated grip
Pathology
BX/Muscle Biopsy Abnormal
BX/Muscle biopsy enzyme assay abnormal
PATH/Tissue biopsy/Enzyme assay abnormal
Associated Diseases & Rule outs
Rule Outs
Muscular dystrophy
Associated Disease & Complications
Anemia
Cholelithiasis/bilirubin gall stones
Metabolic Myopathy
Myoglobinemia
Myoglobinuria
Myopathy
Phosphofructokinase deficiency/GSD VII (Tarui)
Disease Synergy - Causes
Synergy/Carbohydrate excess/diet
Synergy/Exercise/severe
Disease Mechanism & Classification
Class
CLASS/Pediatric disorders (ex)
CLASS/Muscle disorder (ex)
CLASS/Striated muscle disorder (ex)
Pathophysiology
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Pathophysiology/Phosphofructokinase defect
Pathophysiology/Hemolysis
Pathophysiology/Metabolic myopathy (ex)
Pathophysiology/Myocyte breakdown/lysis
Process
PROCESS/Autosomal recessive disorder (ex)
PROCESS/Enzyme defect/Metabolic disorder (ex)
PROCESS/Hereditofamilial (category)
PROCESS/INCIDENCE/Rare disease (ex)
PROCESS/Metabolic/storage disorder (category)
PROCESS/Storage disorder (ex)
Synonyms
Synonym
DEFIC MUSCLE PHOSPHOFRUCTOKINASE, Deficiencies Muscle Phosphofructokinase, Deficiency Muscle Phosphofructokinase, Disease Tarui, Disease Tarui's, GLYCOGEN STORAGE DIS VII, Glycogen storage disease type VII, Glycogen storage disease type VII (disorder), GLYCOGEN STORAGE DISEASE VII, GLYCOGENOSIS 07, Glycogenosis 7, GLYCOGENOSIS TYPE VII, GSD VII, GSD7, Muscle phosphofructokinase def, MUSCLE PHOSPHOFRUCTOKINASE DEFIC, Muscle Phosphofructokinase Deficiencies, Muscle Phosphofructokinase Deficiency, Muscle phosphofructokinase deficiency (disorder), PFK Muscle phosphofructokinase deficiency, PFK Phosphofructokinase def, PFKM DEFICIENCY, Phosphofructokinase Deficiencies Muscle, PHOSPHOFRUCTOKINASE DEFICIENCY, Phosphofructokinase Deficiency Muscle, phosphofructokinase myopathy, TARUI DIS, Tarui disease, TARUIS DIS, Taruis Disease, Tarui's disease, Tauri, Tauri disease, Synonym/Glycogen disease of muscle/type VII, Synonym/Glycogen storage disease VII, Synonym/Glycogenosis type VII, Synonym/GSD VII/Glycogen storage disease VII, Synonym/Muscle Phosphofructokinase deficiency, Synonym/PFK deficiency, Synonym/Tarui disease
Definition

Serum creatine kinase (CK) values usually are increased;

Lactic acid does not increase following exercise;

Bilirubin may be elevated; Reticulocytosis may be increased;

Phosphorous 31-nuclear magnetic resonance (31P-NMR) spectroscopy reveals a distinct peak of phosphorylated monoesters, which represents the glycolytic intermediates that accumulate as a result of the enzymatic block;

Electromyography (EMG) may show small motor potentials of short duration consistent with myopathic changes;

Histologic Findings: Glycogen accumulates between myofibrils under the sarcolemma, as in McArdle disease; Muscle glycogen content typically is greater than 1_5 g per 100 gms wet muscle weight; An abnormal polysaccharide, unique to Tarui disease, also may be found, especially in older patients; This polysaccharide is periodic acid-Schiff (PAS) positive but is not digested by diastase; Nonspecific myopathic changes also may be observed;

Renal failure may complicate myoglobinuria; The small number of patients with the infantile variant have all died during early childhood;

The classic and late-onset types are relatively mild disorders with minor lifestyle restrictions.

Failure to limit exercise in a patient with myoglobinuria may lead to renal failure;

------------------[Emedicine.com website 2005]---------------------------

Tarui"s disease; Type VII glycogenosis, Tarui"s syndrome;

Glycogen storage defect type VII, Glycogen storage disease VII, glycogenosis VII, glycogenosis type VII, muscle phosphofructokinase deficiency, phosphofructokinase (PFK) deficiency; An inborn error of glycogen metabolism characterized by phosphofructokinase deficiency in the muscles, associated with abnormal deposition of glycogen in muscle tissues; Occasionally, myoglobinuria; The symptoms are similar to those seen in McArdle"s disease (Type V glycogenosis); Occurs in three variants: Classic Tarui disease typically presents in childhood with exercise intolerance and anemia; The fatal infantile variant presents in the first year of life; All patients of reported cases died by age 4 years; The late-onset variant manifests itself during later adulthood with progressive limb weakness without myoglobinuria or cramps; Autosomal recessive inheritance; Males are slightly more often affected than females; Very rare, only about 40 cases reported; The report of Tarui et al in 1965 was based on 3 adult siblings with exercise intolerance and easy fatigability

-------------------------[whonamedit.com website 2005]----------------------------------

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