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.
Category
Inherited metabolic disorder
Brite
Human diseases in ICD-11 classification [BR:br08403]
05 Endocrine, nutritional or metabolic diseases
Metabolic disorders
Inborn errors of metabolism
5C59 Inborn errors of neurotransmitter metabolism
H02597 Sepiapterin reductase deficiency
Pathway-based classification of diseases [BR:br08402]
Amino acid metabolism
nt06028 Dopamine and serotonin metabolism
H02597 Sepiapterin reductase deficiency
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.
