Sepiapterin reductase deficiency (SRD)

Genetics

• This is caused by mutations in the sepiapterin reductase (SPR) gene on chromosome 2
• It is an in-born error of tetrahydrobiopterin (BH4) metabolism
• The transmission is autosomal recessive

References

1. Wali GM, Thony B, Blau N. Sepiapterin reductase deficiency: two Indian siblings with unusual clinical features. Mov Disord 2010; 25:954-955.
2. Bonafé L, Thöny B, Penzien JM, Czarnecki B, Blau N. Mutations in the sepiapterin reductase gene cause a novel tetrahydrobiopterin-dependent monoamine-neurotransmitter deficiency without hyperphenylalaninemia. Am J Human Genet 2001; 69:269-277.
3. Neville BG, Parascandalo R, Farrugia R, Felice A. Sepiapterin reductase deficiency: a congenital dopa-responsive motor and cognitive disorder. Brain 2005; 128:2291-2296.
4. Dill P, Wagner M, Somerville A, Thöny B, Blau N, Weber P. Child neurology: paroxysmal stiffening, upward gaze, and hypotonia: hallmarks of sepiapterin reductase deficiency. Neurology 2012; 78:e29-e32.
5. Leuzzi V, Carducci C, Tolve M, Giannini MT, Angeloni A, Carducci C. Very early pattern of movement disorders in sepiapterin reductase deficiency. Neurology 2013; 81:2141-2142. 
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