BIOMAT Database Logo BIOMAT Database Logo

Glycogenosis type V (McArdle's disease) with hyperuricemia. A case report and clinical investigation. 1993

K Jinnai, and N Kono, and Y Yamamoto, and F Kanda, and S Ohno, and M Tsutsumi, and Y Yamada, and M Kawachi, and S Tarui, and T Fujita
Department of Internal Medicine, Kobe University School of Medicine, Japan.

A 28-year-old male with glycogenosis type V associated with continuous hyperuricemia during mild daily activities is reported. An aerobic exercise test using a bicycle ergometer revealed that purine metabolites, i.e., ammonia, inosine, hypoxanthine and xanthine, were transiently increased by the exercise and that a subsequent increment in uric acid continued until the following day. The accelerated purine degradation by the muscle exercise was thus shown to be able to cause the overt hyperuricemia in a patient with glycogenosis type V. Therapeutic use of fructose for glycogenosis was disappointing due to fructose-induced hyperuricemia. A search for myogenic hyperuricemia is essential for therapeutic trials.

UI MeSH Term Description Entries
D008297 Male Males
D009132 Muscles Contractile tissue that produces movement in animals. Muscle Tissue,Muscle,Muscle Tissues,Tissue, Muscle,Tissues, Muscle
D009460 Neurologic Examination Assessment of sensory and motor responses and reflexes that is used to determine impairment of the nervous system. Examination, Neurologic,Neurological Examination,Examination, Neurological,Examinations, Neurologic,Examinations, Neurological,Neurologic Examinations,Neurological Examinations
D004798 Enzymes Biological molecules that possess catalytic activity. They may occur naturally or be synthetically created. Enzymes are usually proteins, however CATALYTIC RNA and CATALYTIC DNA molecules have also been identified. Biocatalyst,Enzyme,Biocatalysts
D005080 Exercise Test Controlled physical activity which is performed in order to allow assessment of physiological functions, particularly cardiovascular and pulmonary, but also aerobic capacity. Maximal (most intense) exercise is usually required but submaximal exercise is also used. Arm Ergometry Test,Bicycle Ergometry Test,Cardiopulmonary Exercise Testing,Exercise Testing,Step Test,Stress Test,Treadmill Test,Cardiopulmonary Exercise Test,EuroFit Tests,Eurofit Test Battery,European Fitness Testing Battery,Fitness Testing,Physical Fitness Testing,Arm Ergometry Tests,Bicycle Ergometry Tests,Cardiopulmonary Exercise Tests,Ergometry Test, Arm,Ergometry Test, Bicycle,Ergometry Tests, Arm,Ergometry Tests, Bicycle,EuroFit Test,Eurofit Test Batteries,Exercise Test, Cardiopulmonary,Exercise Testing, Cardiopulmonary,Exercise Tests,Exercise Tests, Cardiopulmonary,Fitness Testing, Physical,Fitness Testings,Step Tests,Stress Tests,Test Battery, Eurofit,Test, Arm Ergometry,Test, Bicycle Ergometry,Test, Cardiopulmonary Exercise,Test, EuroFit,Test, Exercise,Test, Step,Test, Stress,Test, Treadmill,Testing, Cardiopulmonary Exercise,Testing, Exercise,Testing, Fitness,Testing, Physical Fitness,Tests, Arm Ergometry,Tests, Bicycle Ergometry,Tests, Cardiopulmonary Exercise,Tests, EuroFit,Tests, Exercise,Tests, Step,Tests, Stress,Tests, Treadmill,Treadmill Tests
D006012 Glycogen Storage Disease Type V Glycogenosis due to muscle phosphorylase deficiency. Characterized by painful cramps following sustained exercise. Glycogenosis 5,McArdle's Disease,Deficiency, Muscle Phosphorylase,Glycogen Storage Disease Type 5,Glycogen Storage Disease V,McArdle Disease,McArdle Type Glycogen Storage Disease,Mcardle Syndrome,Muscle Glycogen Phosphorylase Deficiency,Muscle Phosphorylase Deficiency,Myophosphorylase deficiency,PYGM Deficiency,Deficiencies, Muscle Phosphorylase,Deficiencies, PYGM,Deficiency, PYGM,Disease, McArdle,Disease, McArdle's,Glycogenosis 5s,McArdles Disease,Mcardle Syndromes,Muscle Phosphorylase Deficiencies,Myophosphorylase deficiencies,PYGM Deficiencies,Phosphorylase Deficiencies, Muscle,Phosphorylase Deficiency, Muscle,Syndrome, Mcardle,Syndromes, Mcardle,deficiencies, Myophosphorylase,deficiency, Myophosphorylase
D006073 Gout Metabolic disorder characterized by recurrent acute arthritis, hyperuricemia and deposition of sodium urate in and around the joints, sometimes with formation of URIC ACID calculi. Gouts
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000328 Adult A person having attained full growth or maturity. Adults are of 19 through 44 years of age. For a person between 19 and 24 years of age, YOUNG ADULT is available. Adults
D001706 Biopsy Removal and pathologic examination of specimens from the living body. Biopsies

Related Publications

K Jinnai, and N Kono, and Y Yamamoto, and F Kanda, and S Ohno, and M Tsutsumi, and Y Yamada, and M Kawachi, and S Tarui, and T Fujita
Glycogenosis type V or McArdle's disease.
September 2003, Developmental medicine and child neurology,
K Jinnai, and N Kono, and Y Yamamoto, and F Kanda, and S Ohno, and M Tsutsumi, and Y Yamada, and M Kawachi, and S Tarui, and T Fujita
Glycogenosis type V (McArdle's disease) mimicking atypical myositis.
January 2001, Clinical rheumatology,
K Jinnai, and N Kono, and Y Yamamoto, and F Kanda, and S Ohno, and M Tsutsumi, and Y Yamada, and M Kawachi, and S Tarui, and T Fujita
Hyperuricemia in type V glycogenosis.
April 1987, Neurology,
K Jinnai, and N Kono, and Y Yamamoto, and F Kanda, and S Ohno, and M Tsutsumi, and Y Yamada, and M Kawachi, and S Tarui, and T Fujita
Myogenic hyperuricemia: a comparative study between type V and type VII glycogenosis.
January 1989, Advances in experimental medicine and biology,
K Jinnai, and N Kono, and Y Yamamoto, and F Kanda, and S Ohno, and M Tsutsumi, and Y Yamada, and M Kawachi, and S Tarui, and T Fujita
Glycogenosis 5 or McArdle's disease: case for diagnosis.
January 1983, Military medicine,
K Jinnai, and N Kono, and Y Yamamoto, and F Kanda, and S Ohno, and M Tsutsumi, and Y Yamada, and M Kawachi, and S Tarui, and T Fujita
McArdle's disease: a clinical review and case report.
January 2013, Tennessee medicine : journal of the Tennessee Medical Association,
K Jinnai, and N Kono, and Y Yamamoto, and F Kanda, and S Ohno, and M Tsutsumi, and Y Yamada, and M Kawachi, and S Tarui, and T Fujita
McArdle's disease (glycogen storage disease type V) and anesthesia--a case report and review of the literature.
September 2013, Paediatric anaesthesia,
K Jinnai, and N Kono, and Y Yamamoto, and F Kanda, and S Ohno, and M Tsutsumi, and Y Yamada, and M Kawachi, and S Tarui, and T Fujita
[McArdle's disease: a case report].
December 1980, Arquivos de neuro-psiquiatria,
K Jinnai, and N Kono, and Y Yamamoto, and F Kanda, and S Ohno, and M Tsutsumi, and Y Yamada, and M Kawachi, and S Tarui, and T Fujita
Mcardle's disease. A case report.
January 1996, The Turkish journal of pediatrics,
K Jinnai, and N Kono, and Y Yamamoto, and F Kanda, and S Ohno, and M Tsutsumi, and Y Yamada, and M Kawachi, and S Tarui, and T Fujita
[Clinical features, diagnosis and treatment of McArdle's glycogenosis].
January 1984, Zhurnal nevropatologii i psikhiatrii imeni S.S. Korsakova (Moscow, Russia : 1952),
Copied contents to your clipboard!