Use

Polyols are sugar alcohols identified in blood, urine, and CSF. Characteristic abnormal urinary polyol patterns may indicate inborn errors of the pentose phosphate pathway, including transaldolase (TALDO), transketolase, and ribose‑5‑phosphate isomerase (RPI) deficiencies. This assay is the method of choice for biochemical screening of these disorders. Sedoheptulokinase deficiency may also be detected, though its clinical correlation is unclear. Abnormal results should be confirmed via enzymatic or molecular genetic testing. Interpretation is pattern‑based and supported by comprehensive report including differential diagnosis and follow‑up guidance. (Summarized from “Clinical Information”, “Highlights”, “Genetics Test Information”, and interpretive content.)