dystonia, DOPA-responsive, due to sepiaterin reductase deficiency(redirected from DOPA-responsive dystonia due to sepiaterin reductase deficiency)
dystonia, DOPA-responsive, due to sepiaterin reductase deficiencyAn 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.
Severe dopamine and serotonin deficiencies in the CNS due to a defect in BH4 synthesis.
Caused by defects of SPR, which encodes an aldo-keto reductase that catalyses the NADPH-dependent reduction of pteridine derivatives.
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