COMPARISON OF PLASMA CATECHOL LEVELS FROM CORD BLOOD AND INFANT VENOUS BLOOD IN THE NEONATAL DIAGNOSIS OF MENKES DISEASE. † 861

Partial deficiency of the copper-containing enzyme dopamine-β-hydroxylase (DBH) in Menkes disease (MD) produces abnormal plasma and CSF levels of neurochemicals affected by this enzyme. We previously reported the predictive value of catechol levels, assayed by HPLC, for the diagnosis of Menkes disease in the early neonatal period, during which other biochemical markers are unreliable (J Inher Metab Dis 16:907-908, 1993). The present work compared catechol levels (pg/ml) in cord blood to those in infant venous blood obtained just after birth from three Menkes disease infants born during 1995: Table

Table 1

Delineation of the neurochemical profile in normal control cord blood is currently under way. The above data suggest that 1) there is substantial transplacental clearance of DOPAC and DOPA, 2) DBH deficiency in MD is presentin utero, and 3) catechol analysis of cord blood may be applicable as a rapid, noninvasive test for MD in at-risk newborns.

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