Sepiapterin reductase deficiency: Report of 5 new cases.

Abstract

BACKGROUND:

Sepiapterin reductase deficiency is a rare, under-recognized, autosomal recessively inherited disorder of neurotransmitter metabolism.

CASE REPORT:

Five new patients from 3 unrelated Saudi consanguineous families are reported. Symptoms began at 6 months, with delay to diagnosis averaging 8 years. All 5 patients presented with severe symptoms including axial hypotonia, dystonia, and cognitive impairment, associated with hyper-reflexia (4 patients), spasticity (4 patients), bulbar dysfunction (4 patients), and oculogyric crisis (2 patients) with diurnal fluctuation and sleep benefit. Cerebrospinal fluid neurotransmitters analysis showed a typical pattern with increased sepiapterin and increased 7,8-dihydrobiopterin. Analysis of the SPR gene identified 3 novel mutations: c.1A > G, c.370T > C, and c.527C > T. Patient one, with early diagnosis, is currently developing within the normal range. The 4 other patients showed significant improvement in their motor function, but only mild improvement in their cognitive dysfunction.

CONCLUSION:

Our cases illustrate the difficulties in the diagnosis of sepiapterin reductase deficiency in infancy, and the importance of early recognition and management.

• Authors: Sarah AlSubhi, Saad AlShahwan, Mohamed AlMuhaizae, Hamed AlZaidan, Brahim Tabarki
• Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society (Eur J Paediatr Neurol) Vol. 21 Issue 3 Pg. 583-586 (May 2017) ISSN: 1532-2130 [Electronic] England
• PMID: 28189489 (Publication Type: Case Reports, Journal Article)
• Copyright: Copyright © 2017 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.

Chemical References

• Pterins
• Biopterin
• 7,8-dihydrobiopterin
• sepiapterin
• Alcohol Oxidoreductases
• sepiapterin reductase

Topics

• Adolescent
• Alcohol Oxidoreductases (genetics)
• Biopterin (analogs & derivatives, cerebrospinal fluid)
• Child
• Delayed Diagnosis
• Dystonia (cerebrospinal fluid, genetics)
• Female
• Humans
• Infant
• Male
• Metabolism, Inborn Errors (cerebrospinal fluid, genetics)
• Mutation
• Psychomotor Disorders (cerebrospinal fluid, genetics)
• Pterins (cerebrospinal fluid)