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Sepiapterin reductase deficiency (SRD; Online Mendelian Inheritance in Man *182125) is a rare disorder of biogenic amines synthesis caused by mutations of the SPR gene on chromosome 2p14-p12.1 The most common presenting symptoms of SRD are developmental delay and axial hypotonia.2 The few patients observed during the very early stage of the disease suggested a peculiar pattern of neurologic impairment.3,4 With the aim of contributing to this topic, we report on a new case diagnosed and treated since the first months of life.
Footnotes
Supplemental data at www.neurology.org
Author contributions: All authors have made a substantial contribution so as to qualify for authorship. Each author listed on the manuscript has seen and approved the submission of this version of the manuscript and takes full responsibility for the manuscript. Vincenzo Leuzzi: drafting/revising the manuscript, analysis and interpretation of clinical and biochemical data, acquisition of data. Claudia Carducci: drafting/revising the manuscript, biochemical analysis execution and interpretation. Manuela Tolve: drafting/revising the manuscript, molecular analysis execution and interpretation. Maria Teresa Giannini: drafting/revising the manuscript, analysis and interpretation of patient's neuromotor patterns. Antonio Angeloni: drafting/revising the manuscript, genotype/biochemical phenotype correlation interpretation. Carla Carducci: drafting/revising the manuscript, molecular analysis interpretation.
Study funding: University of Rome (Sapienza Università di Roma) 2011–2012. Prog. N. C26A11CEXE.
Disclosure: The authors report no disclosures relevant to the manuscript. Go to Neurology.org for full disclosures.
- Received June 5, 2013.
- Accepted in final form August 12, 2013.
- © 2013 American Academy of Neurology
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