Catalog

Motor or cognitive disorder due to sepiapterin reductase deficiency

No MMS code

Link to WHO Definition

Motor or cognitive disorder due to sepiapterin reductase deficiency – http://id.who.int/icd/entity/1465745277

Dopa responsive dystonia due to sepiapterin reductase deficiency belongs to the group of tetrahydrobiopterin deficiencies without hyperphenylalaninemia and is characterised principally by progressive psychomotor retardation, dystonia and spasticity in childhood.