Sepiapterin reductase deficiency

Definition:

Sepiapterin reductase deficiency is a very rare autosomal recessive disease resulting in monoamine neurotransmitter depletion. Patients exhibit progressive psychomotor retardation, dystonia, dopamine and serotonin deficiencies. Mutations in the SPR gene have been reported. Sepiapterin reductase catalyzes the final step in the de novo synthesis of tetrahydrobiopterin, essential cofactor for phenylalanine, tyrosine, and tryptophan hydroxylases.

References:

[1]. L Bonafé, et al. Mutations in the sepiapterin reductase gene cause a novel tetrahydrobiopterin-dependent monoamine-neurotransmitter deficiency without hyperphenylalaninemia. Am J Hum Genet. 2001 Aug;69(2):269-77. [Content Brief]

[2]. Luisa Arrabal, et al. Genotype-phenotype correlations in sepiapterin reductase deficiency. A splicing defect accounts for a new phenotypic variant. Neurogenetics. 2011 Aug;12(3):183-91. [Content Brief]

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