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Dihydropyrimidinase deficiency, a progressive neurological disorder?
C W Putman1, J J Rotteveel, R A Wevers
1Department of Paediatric Neurology, University Hospital Nijmegen, The Netherlands.
Neuropediatrics
|April 1, 1997
Summary
This study reports the first case of enzymatically proven dihydropyrimidinase (DHP) deficiency in a child with severe developmental delay and neurodegeneration. DHP deficiency is linked to progressive neurological decline.
Area of Science:
- Biochemistry
- Genetics
- Pediatric Neurology
Background:
- Congenital abnormalities and severe developmental delay can indicate underlying metabolic disorders.
- Dihydropyrimidinuria, a condition affecting pyrimidine metabolism, has been associated with neurological abnormalities in previous cases.
- The specific enzyme dihydropyrimidinase (DHP) plays a crucial role in pyrimidine breakdown.
Observation:
- A child presented with congenital abnormalities, severe developmental retardation, and a decreasing head circumference centile.
- Magnetic resonance imaging revealed progressive neuronal atrophy and delayed myelination.
- NMR spectroscopy quantified dihydropyrimidine concentrations, and liver biopsy showed a total deficiency of dihydropyrimidinase (DHP).
Findings:
- This case represents the first individual with enzymatically confirmed dihydropyrimidinase (DHP) deficiency.
- The patient exhibited a neurodegenerative clinical course, suggesting a link between DHP deficiency and neurological decline.
- This finding expands the understanding of dihydropyrimidinuria, previously reported in three other patients with diverse neurological issues.
Implications:
- Enzymatically proven DHP deficiency offers a new etiological explanation for severe neurodevelopmental disorders.
- This case underscores the importance of investigating DHP deficiency in children with unexplained neurological deterioration.
- Further research into DHP's role in neurological function may reveal novel therapeutic targets.