Isolated sedoheptulokinase deficiency
Synonyms: Isolated SHPK deficiency
A rare hereditary disorder of pentose phosphate metabolism characterized by increased urine levels of sedoheptulose and erythritol and low-to-normal excretion of sedoheptulose-7P. Clinical presentation of this disorder is currently unclear.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
Newly diagnosed with
Isolated sedoheptulokinase deficiency?
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Advocacy Organizations
Mississippi Metabolics Foundation
Mississippi Metabolics Foundation (MMF) was founded to raise awareness, educate, and provide support to those living or caring for someone with genetic metabolic disorders/inborn errors of metabolism (IEM).
Louisiana Metabolic Disorders Coalition
We support, educate, and advocate for patients & families affected by metabolic disorders.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Clinical Trials
For a list of clinical trials in this disease area, please click here.