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

B. Assmann; G. Göhlich; M. Baethmann; R. A. Wevers; A. H. Van Gennip; A. B. P. Van Kuilenburg; C. Dietrich; L. Wagner; J. J. Rotteveel; J. Schaper; E. Mayatepek; G. F. Hoffmann; T. Voit

doi:10.1055/s-2006-923933

Neuropediatrics, Table of Contents

Neuropediatrics 2006; 37(1): 20-25
DOI: 10.1055/s-2006-923933

Original Article

Georg Thieme Verlag KG Stuttgart · New York

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

B. Assmann¹ ^, ² , G. Göhlich³ , M. Baethmann³ , R. A. Wevers⁴ , A. H. Van Gennip⁵ ^, ⁷ , A. B. P. Van Kuilenburg⁵ , C. Dietrich² , L. Wagner² , J. J. Rotteveel⁶ , J. Schaper⁸ , E. Mayatepek¹ , G. F. Hoffmann² , T. Voit³

¹Department of General Pediatrics, University Children's Hospital, Duesseldorf, Germany
²Department of General Pediatrics, University-Children's Hospital, Heidelberg, Germany
³Department of Pediatrics and Pediatric Neurology, University Children's Hospital, Essen, Germany
⁴University Medical Centre Nijmegen, Institute of Neurology, Nijmegen, The Netherlands
⁵Academic Medical Centre Amsterdam, Laboratory Genetic Metabolic Diseases, Amsterdam, The Netherlands
⁶Interdisciplinary Child Neurology Centre (IKNC), Sint Radboudziekenhuis, Nijmegen, The Netherlands
⁷Academic Hospital Maastricht, Departments of Biochemical Genetics and Clinical Chemistry, Maastricht, The Netherlands
⁸Institute of Diagnostic Radiology, University Hospital, Duesseldorf, Germany

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

Full Text

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Dr. Birgit Assmann

Department of General Pediatrics
University Children's Hospital

Moorenstrasse 5

40225 Duesseldorf

Germany

Email: Birgit.Assmann@uni-duesseldorf.de