Dihydropteridine Reductase Deficiency: A Treatable Neurotransmitter Movement Disorder Masquerading as Refractory Epilepsy Due to Novel Mutation

2018 ◽  
Vol 85 (9) ◽  
pp. 812-813 ◽  
Author(s):  
Vykuntaraju K. Gowda ◽  
Hemadriben Vegda ◽  
Naveen Benakappa ◽  
Asha Benakappa
Keyword(s):  
Movement Disorder ◽  
Refractory Epilepsy ◽  
Novel Mutation ◽  
Dihydropteridine Reductase ◽  
Reductase Deficiency

Neuroblastoma in a patient with dihydropteridine reductase deficiency

1990 ◽  
Vol 149 (10) ◽  
pp. 713-715 ◽  
Author(s):  
L. G. Greeves ◽  
R. J. Leeming ◽  
K. Hyland ◽  
S. I. Dempsey ◽  
D. J. Carson
Keyword(s):  
Dihydropteridine Reductase ◽  
Reductase Deficiency

scholarly journals High prolactin levels in dihydropteridine reductase deficiency: A sign of therapy failure or additional pathology?

JIMD Reports ◽  
2021 ◽  
Author(s):  
Nicola Vitturi ◽  
Livia Lenzini ◽  
Concetta Luisi ◽  
Miryam Carecchio ◽  
Giorgia Gugelmo ◽  
...  
Keyword(s):  
Dihydropteridine Reductase ◽  
Therapy Failure ◽  
Reductase Deficiency

Hyperphenylalaninemia Due to Dihydropteridine Reductase Deficiency: Diagnosis by Measurement of Oxidized and Reduced Pterins in Urine

PEDIATRICS ◽  
1980 ◽  
Vol 65 (4) ◽  
pp. 806-810
Author(s):  
Sheldon Milstien ◽  
Seymour Kaufman ◽  
George K. Summer
Keyword(s):  
High Performance ◽  
Active Form ◽  
High Performance Liquid Chromatographic ◽  
Dihydropteridine Reductase ◽  
Normal Children ◽  
Reductase Deficiency ◽  
Cultured Skin ◽  
Aromatic Amino Acid Hydroxylase ◽  
Liver Biopsies ◽  
Liquid Chromatographic

Hyperphenylalaninemia due to dihydropteridine reductase deficiency results from the inability to maintain the aromatic amino acid hydroxylase cofactor, tetrahydrobiopterin, in its reduced or active form. Diagnosis of the disease is usually made by direct enzymatic assay on liver biopsies or in cultured skin fibroblasts. Evidence is presented that normal children and classic phenylketonuric children excrete mainly tetrahy-drobiopterin in their urmnes, whereas children with dihydropteridine reductase deficiency excrete only oxidized forms of biopterin. Details of a rapid high performance liquid chromatographic assay for the measurement of the various forms of biopterin in urine are presented. This assay can be used to screen for suspected dihydropteridine reductase mutants.

Dihydropteridine reductase deficiency in an 18-year-old boy

1983 ◽  
Vol 6 (S2) ◽  
pp. 111-112 ◽  
Author(s):  
J. H. Young ◽  
V. Walker ◽  
P. A. Tippett ◽  
B. E. Clayton ◽  
R. M. Veall
Keyword(s):  
Dihydropteridine Reductase ◽  
Reductase Deficiency

Phenylketonuria due to dihydropteridine reductase deficiency: Presentation of two cases

1985 ◽  
Vol 8 (S2) ◽  
pp. 97-98 ◽  
Author(s):  
R. Longhi ◽  
E. Riva ◽  
R. Valsasina ◽  
S. Paccanelli ◽  
M. Giovannini
Keyword(s):  
Dihydropteridine Reductase ◽  
Reductase Deficiency

Non-responsive Dihydropteridine Reductase Deficiency

Pteridines ◽  
1991 ◽  
Vol 3 (1-2) ◽  
pp. 23-24
Author(s):  
R. Cerone ◽  
A. R. Fantasia ◽  
M. C. Schiaffino ◽  
L. Maritano ◽  
C. Romano
Keyword(s):  
Dihydropteridine Reductase ◽  
Reductase Deficiency
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