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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
PHKA2 gene
symptoms
brown colored urine
fatigue, severe or unusual
muscle weakness
onset, adulthood
pain, muscle
rhabdomyolysis
laboratory finding
Myoglobin0.000.00 increasedurine
Creatine kinase 25.0090.00U/lserum
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