SUCCINIC SEMIALDEHYDE DEHYDROGENASE-DEFICIENCY - LOW EXCRETION OF METABOLITES IN A NEONATE

A neonate at risk for succinic semialdehyde dehydrogenase deficiency w as investigated on day 1. The urine level of 4-hydroxybutyrate was onl y slightly elevated (23 mu mol/mmol of creatinine; controls 1.6-14, n = 18). This value was considerably less than those found for older chi ldren with succinic semialdehyde dehydrogenase deficiency and made int erpretation of the result uncertain. The diagnosis of succinic semiald ehyde dehydrogenase deficiency was confirmed by enzyme assay, and repe at urine testing showed a steady increase in the level of 4-hydroxybut yrate to 359 mu mol/mmol at 6 months.