KEGG   VARIANT: 6697v1
Entry
6697v1                      Variant                                
Name
SPR deficiency
Type
Loss of function
Gene
SPR  sepiapterin reductase [KO:K00072]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 182125
Network
nt06028  Dopamine and serotonin metabolism
Disease
H02597  Sepiapterin reductase deficiency
Reference
PMID:21431957
  Authors
Arrabal L, Teresa L, Sanchez-Alcudia R, Castro M, Medrano C, Gutierrez-Solana L, Roldan S, Ormazabal A, Perez-Cerda C, Merinero B, Perez B, Artuch R, Ugarte M, Desviat LR
  Title
Genotype-phenotype correlations in sepiapterin reductase deficiency. A splicing defect accounts for a new phenotypic variant.
  Journal
Neurogenetics 12:183-91 (2011)
DOI:10.1007/s10048-011-0279-4
Reference
PMID:11443547
  Authors
Bonafe L, Thony B, Penzien JM, Czarnecki B, Blau N
  Title
Mutations in the sepiapterin reductase gene cause a novel tetrahydrobiopterin-dependent monoamine-neurotransmitter deficiency without hyperphenylalaninemia.
  Journal
Am J Hum Genet 69:269-77 (2001)
DOI:10.1086/321970
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