Glutaryl-CoA dehydrogenase (GCDH) deficiency is a rare neurometabolic disorder that is considered treatable if patients are identified before the onset of acute encephalopathic crises. To allow early identification of affected individuals, tandem mass spectrometrybased newborn screening for GCDH deficiency has been started in Germany in 1999. We prospectively followed neonatally screened pa-

After diagnosis in screening, treatment can be initiated before the occurrence of severe metabolic decompensation. However, a favourable effect can only be achieved with immediate transfer of the neonate to a metabolic centre for adequate treatment in case of a positive screening result.

Pain is a multidimensional experience, which includes sensory, cognitive, and affective aspects. Converging lines of evidence indicate that dopaminergic neurotransmission plays an important role in human pain perception. However, the precise effects of dopamine on different aspects of pain perception remain to be elucidated. To address this question, we experimentally decreased dopaminergic neurotransmission in 22 healthy human subjects using Acute Phenylalanine and Tyrosine Depletion (APTD). During APTD and a control condition we applied brief painful laser stimuli to the hand, assessed different aspects of pain perception, and recorded electroencephalographic responses. APTD-induced decreases of cerebral dopaminergic activity did not influence sensory aspects of pain perception. In contrast, APTD yielded increases of pain unpleasantness. The increases of unpleasantness ratings positively correlated with effectiveness of APTD. Our finding of an influence of dopaminergic neurotransmission on affective but not sensory aspects of phasic pain suggests that analgesic effects of dopamine might be mediated by indirect effects on pain affect rather than by direct effects on ascending nociceptive signals. These findings contribute to our understanding of the complex relationship between dopamine and pain perception, which may play a role in various clinical pain states.

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Two eight- and sixteen-year-old children with severe progressive neurologic disease revealed an ultrastructural finding of lysosomal vacuolization in mesenchymal or parenchymal cells of different organ biopsies (skin, muscle, nerve and liver), which may be very suggestive of mucolipidosis. However, in our patients biochemical tests available for these diseases yielded negative results, except for increased excretion of free sialic acid in urine and sialic acid storage in cultured fibroblasts. The clinical picture and the ultrastructural and biochemical findings were compatible with Salla disease, a rare lysosomal storage disease originally observed in Finland.