Living with Isolated sedoheptulokinase deficiency
A rare inherited metabolic condition with high levels of certain sugars in the urine and a wide range of possible features, starting before or at birth.
Understanding Isolated sedoheptulokinase deficiency
Urine has higher levels of sedoheptulose and erythritol. It can start during pregnancy or in newborns. GARD lists many possible features, including joint contractures, liver and kidney differences, anemia, and facial and skull differences.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Stiff, bent joints (arthrogryposis, flexion contractures)
- Liver disease with slowed bile flow (cholestasis)
- Anemia with small, pale red blood cells
- Fat in the stool (steatorrhea)
- Hip dysplasia
- Larger than usual head (macrocephaly)
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include genetic specialists.
- 3Consider genetic testing
Changes in SHPK are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with rare disease patient organizations for support
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the SHPK gene cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: deficiency of heptulokinase; deficiency of sedoheptulokinase; isolated shpk deficiency; sedoheptulokinase deficiency; shpkd
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Isolated sedoheptulokinase deficiency.
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