Juvenile form of dihydropteridine reductase deficiency in 2 Tunisian patients.
Two brothers are described who had juvenile-onset DHPR deficiency. Both were considered normal until six years of age when they developed a fluctuating and progressive encephalopathy combining mental retardation, epilepsy, pyramidal, cerebellar and extrapyramidal signs.
Service de Neurologie, National Institute of Neurology, Tunis, Tunisia.
A
A
Larnaout
S
S
Belal
N
N
Miladi
N
N
Kaabachi
A
A
Mebazza
J L
JL
Dhondt
F
F
Hentati
D000328:Adult; D017668:Age of Onset; D002648:Child; D003241:Consanguinity; D018450:Disease Progression; D005500:Follow-Up Studies; D006801:Humans; D008297:Male; D008661:Metabolism, Inborn Errors / Q000235:genetics / Q000503:physiopathology*; D009069:Movement Disorders / Q000201:enzymology* / Q000235:genetics / Q000503:physiopathology; D019636:Neurodegenerative Diseases / Q000201:enzymology* / Q000235:genetics / Q000503:physiopathology; D009679:Nuclear Family; D010649:Phenylalanine / Q000097:blood; D010661:Phenylketonurias; D011621:Pteridines / Q000652:urine
D011621:Pteridines; D010649:Phenylalanine