Visit Metagene.de!
Summary
GLYCOGEN STORAGE DISEASE TYPE VII. TARUI DISEASE
GSD7 GLYCOGEN STORAGE DISEASE VII
232800
OMIM = Online Medalian Inheritance of Men
371
12q13.11
rare (1:1000.000)
autosomal recessive
symptoms
anemia
brown colored urine
contractures, joints
early death
exercise intolerance
fetal akinesia/hypokinesia sequence
gallstones, cholelithiasis
hemolysis
jaundice
lung hypoplasia
muscle cramps
muscle weakness
myopathy
onset, childhood
onset, fetus
pain, muscle
renal failure, acute/chronic
rhabdomyolysis
thrombosis
laboratory finding
Muscle phosphofructokinase 100.00decreased activitymuscle
Phosphofructokinase50.0050.00 % of normalerythrocytes
Myoglobin0.000.00 increasedurineno data
Bilirubin 3.4017.00increasedserum
Retikulocytes 1.0015.00increasedblood
Uric acid 0.605.50increasedserum
2-Diphosphoglycerate decreased activityerythrocytes
Creatine kinase 40.00400.00increasedserum
ECG abnormalities -
Glycogen increasedmuscle
Literature
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Nittis TGitlin JDThe copper-iron connection: hereditary aceruloplasminemiaSemin Hematol394282-2892002
Watkins DRosenblatt DSFunctional methionine synthase (cblE and cblG): clinical and biochemical heterogeneityAm J Med Genet340427-4341989
M+Ôé¼ller PHorneff G, Hennermann JBA Rare Inborn Error of Intracellular Processing of Cobalamine Presenting with Microcephalus and Megaloblastic Anemia: A Report of 3 Children.Klin Padiatr002006
Slocum RHCummings, J.G.Amino Acid Analysis of Physiological SamplesTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York0087-1251991
Gherasim CRosenblatt DS, Banerjee RPolymorphic background of methionine synthase reductase modulates the phenotype of a disease-causing mutationHum Mutat002007
Harris ZLNot all absent serum ceruloplasmin is Wilson disease: a review of aceruloplasminemiaJ Investig Med505236S-238S2002
Slocum RHCummings, J.G.Amino Acid Analysis of Physiological SamplesTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York0087-1251991