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Summary
GLYCOGEN STORAGE DISEASE TYPE IXd (GSD9D)
GSD9d MUSCLE GLYCOGENOSIS, X-LINKED
300559
OMIM = Online Medalian Inheritance of Men
715
Xq13.1
rare
X-likned rescessive
mutation in the PHKA1 gene
symptoms
muscle atrophy
muscle weakness
onset, adolescent
onset, childhood
pain, muscle
laboratory finding
Creatine kinase U/lserum
Myoglobin mmol/mol creatinineurine
Literature
Bayram E,et al.Molybdenum cofactor deficiency: review of 12 cases (MoCD and review)Eur J Paediatr Neurol1711-62013