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Start free with EleplanIsolated sedoheptulokinase deficiency
ORPHA:440713Disease
Also called Isolated SHPK deficiency
What it is
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.
Key facts
- Prevalence
- <1 / 1 000 000
- Age of onset
- Antenatal, Neonatal
- Inheritance
- Autosomal recessive
- Classified as
- Disease
Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.
Signs and symptoms
Common30–79%
25- Abnormal CNS myelination
- Abnormality of globe location
- Abnormal renal tubule morphology
- Anemia
- Breech presentation
- Cholestasis
- Cholestatic liver disease
- Diastasis recti
- Hepatitis
- High forehead
- Hip dysplasia
- Hypochromic microcytic anemia
- Hypotelorism
- Inguinal hernia
- Large fontanelles
- Macrocephaly
- Portal hypertension
- Postprandial hyperglycemia
- Renal insufficiency
- Severe postnatal growth retardation
- Shallow orbits
- Short stature
- Steatorrhea
- Subcortical cerebral atrophy
- Ventriculomegaly
These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
Gene
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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