Sepiapterin Reductase Deficiency (SPR)

Sepiapterin reductase deficiency is an autosomal recessive disorder caused by pathogenic variants in the gene SPR. This disorder has infantile onset and is characterized by delayed growth, progressive psychomotor retardation, and involuntary and sustained muscle contractions, as well as muscle stiffness, tremors, oculogyric crises, ataxia, microcephaly, dystonic posture and falls, sleep disturbances, Parkinsonian features, behavioral abnormalities, and diurnal fluctuations of symptoms. The life expectancy for this disorder is currently unknown.

For information about carrier frequency and residual risk, please see the residual risk table.

This gene is included on the following panel(s):