Neuroblastoma in a patient with dihydropteridine reductase deficiency

Abstract

Tetrahydrobiopterin (BH4) deficiency is a rare cause of hyperphenylalaninaemia (HPA) and usually leads to progressive neurological deterioration despite early dietary control of plasma phenylalanine concentrations. Dihydropteridine reductase (DHPR) deficiency is the most severe cause with respect to a fatal outcome. We report a 7-year-old girl with HPA diagnosed on neonatal Guthrie screening who at the age of 6 months had cytotoxic therapy for an adrenal neuroblastoma which secreted catecholamines. When 4 years old she was found to have DHPR deficiency. Although developmentally retarded and microcephalic she has failed to develop the florid neurological features often associated with the condition.

Urinary Biopterin Levels and Blood Dihydropteridine Reductase Activities in Patients with Thyroid and Breast Disorders

“…In our previous studies we have focused on neopterin as a biomarker part in the pterin pathway in both of patients with thyroid and breast disorders (23,24). Still there is only a limited number of studies on changes in BH 4 pathway and/or DHPR activity in cancer patients (25)(26)(27)(28)(29)(30)(31)(32)(33). Therefore, in the present study we evaluated the alteration in biopterin excretion and DHPR activity which would reflect impairment of BH 4 maintenance in patients with breast and thyroid disorders.…”