Phosphofructokinase Deficiency

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Phosphofructokinase Deficiency is a genetic disorder that interferes with the ability of muscles to use carbohydrates (such as glucose) for energy. It is also known as Tarui's Disease. A major symptoms is muscle pain during intense exercise.

This autosomal recessive disease is characterized by signs of discolored or darker urine, muscle weakness and cramps, anemia, and exercise intolerance.

The term refers to similar disorders that appear in both humans and some other mammals, especially dogs.

v • d • e Muscular Dystrophy
The Nine Primary Muscular Dystrophies
Becker's • Congenital • Duchenne • Distal • Emery-Dreifuss • Facioscapulohumeral • Limb-girdle muscular dystrophy • Myotonic • Oculopharyngeal
Other diseases generally classified as Muscular Dystrophy
Spinal Muscular Atrophies	Amyotrophic lateral sclerosis • Infantile Spinal Muscular Atrophy • Intermediate Spinal Muscular Atrophy • Juvenile Spinal Muscular Atrophy • Adult Spinal Muscular Atrophy
Inflammatory Myopathies	Dermatomyositis • Polymyositis
Diseases of Peripheral Nerve	Charcot-Marie-Tooth disease • DeJerine-Sottas Disease • Friedreich's Ataxia
Diseases of the Neuromuscular Junction	Myasthenia gravis • Lambert-Eaton myasthenic syndrome
Metabolic Diseases of the Muscle	Acid Maltase Deficiency • Carnitine Deficiency • Carnitine Palmityl Transferase Deficiency • Debrancher Enzyme Deficiency • Lactate Dehydrogenase Deficiency • Mitochondrial Myopathy • Myoadenylate Deaminase Deficiency • Phosphorylase Deficiency • Phosphofructokinase Deficiency • Phosphoglycerate Kinase Deficiency
Less Common Myopathies	Central Core Disease • Hyperthyroid Myopathy • Myotonia Congenita • Myotubular Myopathy • Nemaline myopathy • Paramyotonia Congenita • Periodic paralysis
Organizations and National events
Muscular Dystrophy Association • Jerry Lewis MDA Telethon • National Institute of Neurological Disorders and Stroke • National Institute of Arthritis and Musculoskeletal and Skin Diseases