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Summary
SEDOHEPTULOKINASE DEFICIENCY (SHPKD)
612713
OMIM = Online Medalian Inheritance of Men
440713
17p13.2
very rare
autosomal recessive
mutation in the SHPK gene
symptoms
anemia
arthrogryposis
diarrhea
dysmorphism
failure to thrive
hypoglycemia
onset, fetus
onset, neonatal
laboratory finding
Erythritol mmol/mol creatinineurine
Sedoheptulose mmol/mol creatinineurine
D-Arabitol mmol/mol creatinineurine
Literature
Bayram E,et al.Molybdenum cofactor deficiency: review of 12 cases (MoCD and review)Eur J Paediatr Neurol1711-62013