Research Notes: Lab Test Results in Prader-Willi Syndrome (PWS)

(Last updated on March 20, 2007)

The spreadsheet below collects reports of lab test findings for neonates and infants with genetically diagnosed Prader-Willi Syndrome (PWS). The spreadsheet can also be viewed full frame or downloaded in Excel or Open Office Calc format by right-clicking on the link and choosing "Save Target As...".

Taken together, the symptomology, muscle biopsies and lab test results of those with PWS strongly suggest that it can be conceptualized at least in part as an inborn error of metabolism (IEM). Unlike other IEMs, the metabolic impairments in PWS apparently are not due to a defect in a single gene involved in a specific metabolic pathway. (I say apparently because the genetic material in the PWS region has not been fully characterized yet.) As a result, although PWS has certain features in common with a number of known IEMs in terms of both symptomology and lab tests results (such as increased acetylcarnitine and impaired mitochondrial function), it is a separate and distinct IEM, one that so far has been very poorly investigated and described.