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Dopa-responsive hypersomnia and mixed movement disorder due to sepiapterin reductase deficiency
Neurology, 2006Sepiapterin reductase deficiency (SRD) is a rare, treatable disorder of monoamine metabolism with cognitive delay and l-dopa responsive movement disorder. We describe a patient with SRD and distinctive phenotypic feature of marked hypersomnolence. Our patient showed improvement with therapies directed at both serotonergic and dopaminergic deficiencies.
Jennifer, Friedman +3 more
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Journal of Inherited Metabolic Disease, 2022
Abstract6R‐L‐erythro‐5,6,7,8‐tetrahydrobiopterin (BH4) is an essential cofactor for aromatic L‐amino acid hydroxylases, including tyrosine hydroxylase (TH), alkylglycerol monooxygenase, and three types of nitric oxide (NO) synthases (NOS). Sepiapterin reductase (SPR) catalyzes the third step of BH4 biosynthesis. SPR gene‐disrupted (Spr−/−) mice exhibit
Chiho Sumi‐Ichinose +6 more
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Abstract6R‐L‐erythro‐5,6,7,8‐tetrahydrobiopterin (BH4) is an essential cofactor for aromatic L‐amino acid hydroxylases, including tyrosine hydroxylase (TH), alkylglycerol monooxygenase, and three types of nitric oxide (NO) synthases (NOS). Sepiapterin reductase (SPR) catalyzes the third step of BH4 biosynthesis. SPR gene‐disrupted (Spr−/−) mice exhibit
Chiho Sumi‐Ichinose +6 more
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European Journal of Pharmaceutics and Biopharmaceutics
sepiapterine reductase deficiency (SRD) is a rare levodopa (L-dopa)-responsive disorder treated with a combination therapy of controlled-release L-dopa and carbidopa. The currently available formulation of controlled-release carbidopa/L-dopa does not entirely meet the requirements for the long-term therapy in pediatric patients. In fact, administration
Evelina Maines +2 more
exaly +3 more sources
sepiapterine reductase deficiency (SRD) is a rare levodopa (L-dopa)-responsive disorder treated with a combination therapy of controlled-release L-dopa and carbidopa. The currently available formulation of controlled-release carbidopa/L-dopa does not entirely meet the requirements for the long-term therapy in pediatric patients. In fact, administration
Evelina Maines +2 more
exaly +3 more sources
neurogenetics, 2011
Sepiapterin reductase (SR) catalyzes the final step in the de novo synthesis of tetrahydrobiopterin, essential cofactor for phenylalanine, tyrosine, and tryptophan hydroxylases. SR deficiency is a very rare disease resulting in monoamine neurotransmitter depletion.
Arrabal L +13 more
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Sepiapterin reductase (SR) catalyzes the final step in the de novo synthesis of tetrahydrobiopterin, essential cofactor for phenylalanine, tyrosine, and tryptophan hydroxylases. SR deficiency is a very rare disease resulting in monoamine neurotransmitter depletion.
Arrabal L +13 more
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2002
A 27 year-old woman presenting with the clinical picture characterized by hypersomnolence, mild psychomotor retardation, dystonia, oculomotor apraxia, weakness, and striking diurnal variations of symptoms was found to be sepiapterin reductase (SR)-deficient by investigations of pterins in cytokine stimulated fibroblasts.
Lina Elzaouk +7 more
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A 27 year-old woman presenting with the clinical picture characterized by hypersomnolence, mild psychomotor retardation, dystonia, oculomotor apraxia, weakness, and striking diurnal variations of symptoms was found to be sepiapterin reductase (SR)-deficient by investigations of pterins in cytokine stimulated fibroblasts.
Lina Elzaouk +7 more
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Journal of Pediatric Endocrinology and Metabolism
Abstract Objectives Sepiapterin reductase deficiency (SRD) is a rare dopa-sensitive neurotransmitter disorder caused by autosomal recessive mutations in the sepiapterin reductase gene. The triad of paroxysmal stiffening, oculogyric crises, and hypotonia are highly suggestive in some patients. However,
Akif Ayaz +2 more
exaly +3 more sources
Abstract Objectives Sepiapterin reductase deficiency (SRD) is a rare dopa-sensitive neurotransmitter disorder caused by autosomal recessive mutations in the sepiapterin reductase gene. The triad of paroxysmal stiffening, oculogyric crises, and hypotonia are highly suggestive in some patients. However,
Akif Ayaz +2 more
exaly +3 more sources
Sepiapterin reductase (SPR) catalyzes several key steps in the biosynthesis of tetrahydrobiopterin (BH4), an essential cofactor for nitric oxide synthases and aromatic amino acid hydroxylases, and therefore for neurotransmitter production. Although several reductases—including carbonyl reductase 1 (CRB1), aldose reductase (AKR1B1), and AKR1C3—can ...
James Woodcock +2 more
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James Woodcock +2 more
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Autosomal Recessive Sepiapterin Reductase Deficiency
2009Hubert Scharnagl +199 more
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Sepiapterin reductase deficiency: Two Indian siblings with unusual clinical features
Movement Disorders, 2010Wali, G M, Thony, B, Blau, N
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