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Summary
GLYCOGEN STORAGE DISEASE TYPE VIII -> TYPE IX
GSD8 GLYCOGEN STORAGE DISEASE VIII -> GSD9
306000
OMIM = Online Medalian Inheritance of Men
370
Xp22.13

Detail information to gene locus by the National Center for Biotechnology Information NCBI:
rare
X-linked recessive
symptoms
brown colored urine
fatigue, severe or unusual
muscle weakness
onset, adulthood
pain, muscle
rhabdomyolysis
laboratory finding
Myoglobin0.000.00 increasedurineno data
Creatine kinase 25.0090.00increasedserum
Literature
Sweetman LOrganic acid analysisTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York00143-1761991
Kelley RIQuantification of pipecolic acid in plasma and urine by isotope-dilution gas chromatography/mass spectrometryTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York014205-2481991
Britton TCet al.The significance of plasma phytanic acid levels in adultsJ Neurol Neurosurg Psychiatry5208911989
Sweetman LOrganic acid analysisTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York00143-1761991