Clinical Findings and a Therapeutic Trial in the First Patient with β-Ureidopropionase Deficiency

Abstract

The clinical, neurophysiological and neuroradiological work-up as well as the results of a specific treatment trial are presented of the first patient diagnosed with β-ureidopropionase deficiency (E. C. 3.5.1.6, McKusick 606673). The patient presented with an early-onset dystonic movement disorder, severe developmental delay with marked impairment of visual responsiveness in combination with severely delayed myelination in magnetic resonance imaging studies. In addition, there were partial optic atrophy, pigmentary retinopathy and mild cerebellar hypoplasia. The enzyme defect was expected to lead to intracerebral deficiency of β-alanine which seems to be a neuromodulator at inhibitory synapses. Therefore, a therapeutic trial with supplementation of β-alanine was undertaken over 1.5 years with no convincing clinical improvement.

Key words

β-Alanine - ureidopropionic acid - dystonia - developmental delay - hypomyelination - β-aminoisobutyric acid

References

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