Isolated sedoheptulokinase deficiency
ORPHA:440713· ICD-10 E88.8
Definition
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.
- Prevalence
- <1 / 1 000 000
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Neonatal