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Summary
GLYCOGEN STORAGE DISEASE, TYPE V. McARDLE DISEASE
GSD5 GLYCOGEN STORAGE DISEASE V
232600
OMIM = Online Medalian Inheritance of Men
368
11q13.1
  • avoidance of excessive exercise
  • high-protein diet
rare (1:1000.000)
autosomal recessive
diagnosis: ammonia, inosine, hypoxanthine and uric acid increase with exercise 31P MRI muscle biopsy
symptoms
brown colored urine
decreased muscle volume, atrophy or hypoplasia
exercise intolerance
muscle cramps
muscle swelling
muscle weakness
muscular rigidity
onset, adolescent
onset, childhood
pain, muscle
rhabdomyolysis
laboratory finding
Myoglobin1000.00250000.00 normal-increasedurineadolescence
Creatine kinase200.001500.0040.00400.00U/lserum
Glycogen phosphorylase (muscle ) 100.00decreased activitymuscle
MRI, muscle, abnormalities -
Uric acid increasedplasma
Ammonia normal-increased (with exercisblood
Literature
Bugiani Met al.Effects of riboflavin in children with complex II deficiencyBrain Dev289576-5812006
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Davili Zet al.Succinate dehydrogenase deficiency associated with dilated cardiomyopathy and ventricular noncompactionEur J Pediatr1668867-8702007
Koeppel Set al.Late-onset multiple acyl-CoA dehydrogenase deficiency: a frequently missed diagnosis?Neurology67815192006
Mayell SJet al.Late presentation of medium-chain acyl-CoA dehydrogenase deficiencyJ Inherit Metab Dis3011042007
Gunes Tet al.Effect of allopurinol supplementation on nitric oxide levels in asphyxiated newbornsPediatr Neurol36117-242007
Benders MJet al.Early postnatal allopurinol does not improve short term outcome after severe birth asphyxiaArch Dis Child Fetal Neonatal Ed913F163-1652006