dystonia, DOPA-responsive, due to sepiaterin reductase deficiency

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dystonia, DOPA-responsive, due to sepiaterin reductase deficiency

An autosomal recessive condition (OMIM:612716) characterised by progressive psychomotor retardation, dystonia (sustained involuntary muscle contractions, often leading to abnormal postures), spasticity and often cognitive defects.

Pathogenesis
Severe dopamine and serotonin deficiencies in the CNS due to a defect in BH4 synthesis.

Molecular pathology
Caused by defects of SPR, which encodes an aldo-keto reductase that catalyses the NADPH-dependent reduction of pteridine derivatives.