Jj. Pitt et al., SUCCINIC SEMIALDEHYDE DEHYDROGENASE-DEFICIENCY - LOW EXCRETION OF METABOLITES IN A NEONATE, Journal of inherited metabolic disease, 20(1), 1997, pp. 39-42
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.