Overview
Isolated sedoheptulokinase deficiency is a very rare inherited metabolic disorder. It affects the way the body processes certain sugars, specifically a sugar called sedoheptulose. The gene responsible for this condition is called SHPK (also known as CARKL). When this gene does not work properly, the body cannot properly break down sedoheptulose, causing it to build up in the blood and urine. This condition is sometimes referred to as sedoheptulosuria, which simply means sedoheptulose in the urine. Because this disease was only recently described and very few cases have been reported, doctors are still learning about its full range of effects. In the cases identified so far, many affected individuals appear to have a relatively mild course, but some may experience symptoms related to the buildup of this sugar. Symptoms can include issues detected through routine metabolic screening, and some patients may have mild developmental or growth concerns. The condition falls under the broader category of disorders of carbohydrate metabolism. Treatment options are currently very limited, and there is no specific approved therapy. Management is mainly supportive, meaning doctors focus on monitoring and addressing individual symptoms as they arise. Research into this condition is ongoing, and genetic testing is the main way to confirm a diagnosis. If you or your child has been diagnosed, working closely with a metabolic specialist is strongly recommended.
Also known as:
Key symptoms:
Elevated sedoheptulose sugar levels in the bloodSedoheptulose sugar detected in the urine (sedoheptulosuria)Possible mild developmental delays in some casesAbnormal results on routine newborn or metabolic screeningPossible mild growth concerns
Clinical phenotype terms (28)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Variable
Can begin at different ages, from infancy through adulthood
Treatments
No FDA-approved treatments are currently listed for Isolated sedoheptulokinase deficiency.
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Specialists
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Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Isolated sedoheptulokinase deficiency.
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Caregiver Resources
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Questions for your doctor
Bring these to your next appointment
- Q1.What symptoms should I watch for that might mean my child's condition is getting worse?,Are there any dietary changes that might help manage this condition?,How often should we have blood and urine tests done?,Are there any clinical trials or research studies we could participate in?,What is the chance that other family members or future children could be affected?,Should other family members be tested for this condition?,Are there any specialists or centers with experience in this specific condition that you would recommend?
Common questions about Isolated sedoheptulokinase deficiency
What is Isolated sedoheptulokinase deficiency?
Isolated sedoheptulokinase deficiency is a very rare inherited metabolic disorder. It affects the way the body processes certain sugars, specifically a sugar called sedoheptulose. The gene responsible for this condition is called SHPK (also known as CARKL). When this gene does not work properly, the body cannot properly break down sedoheptulose, causing it to build up in the blood and urine. This condition is sometimes referred to as sedoheptulosuria, which simply means sedoheptulose in the urine. Because this disease was only recently described and very few cases have been reported, doctors
How is Isolated sedoheptulokinase deficiency inherited?
Isolated sedoheptulokinase deficiency follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.