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PNDDB - DHPR deficiency
OMIM 261630
Enzyme: Dihydropteridine reductase (EC 1.5.1.34)
Reaction: q-Dihydrobiopterin > (NADH)> Tetrahydrobiopterin
DD: Mild (peripheral) to severe forms
Diagnosis: Blood, Urine, CSF, DNA Blood: Phe (high), Neo (normal), Bio (high), DHPR activity (low) Urine: Neo (normal), Bio (high) CSF: Neo (normal), Bio (high), BH2 (high), 5HIAA (low), HVA (low), 5MTHF (low) DNA: see PNDDB
Clinical signs & symptoms: Progressive dystonia Truncal hypotonia Hypertonia of extremities Hypersalivation Choreoathetoosis Seizures Mental retardation Calcification of basal ganglia
Treatment: L-Dopa/Carbidopa (10 or 25%) <15 mg/kg/d - 3-6 doses/day 5-OH-Trp <9 mg/kg/d - 3-6 doses/day Folinic acid 10-20 mg/d - 2 doses/day Low-Phe diet
Alternative treatment: Deprenyl 0.1-0.3 mg/kg/d - 3-4 doses/day Entacapone <30 mg/kg/d - 1-2 doses