[Progressive convulsive encephalopathy: considering a abnormality of biopterin metabolism].
BACKGROUND
Symptomatic forms of hyperphenylalaninemia are rare in France since neonatal screening began.


METHODS
A child born in Algeria from consanguinous parents was referred at 2 years of age for a severe epileptic encephalopathy with hypotonia. Amino acid chromatography revealed hyperphenylalaninemia due to a dihydropteridine reductase deficiency. Dietary restriction of phenylalanine and oral administration of amine precursors, L-dopa and 5-hydroxytryptophan had poor efficiency on epilepsy and psychomotor delay.


CONCLUSIONS
Diagnosis of hyperphenylalaninemia must be evoked in any children with progressive encephalopathy born in country where neonatal screening is not performed.
Mikaeloff
Y
Y
Service de neuropédiatrie, hôpital Saint-Vincent-de-Paul, Paris, France.
Pinton
F
F
Sevin
C
C
Dhondt
J L
JL
Ponsot
G
G
D006916:5-Hydroxytryptophan / Q000627:therapeutic use; D000462:Algeria / Q000208:ethnology; D000927:Anticonvulsants / Q000627:therapeutic use; D001708:Biopterins / Q000097:blood / Q000378:metabolism* / Q000652:urine; D001921:Brain / Q000473:pathology; D002675:Child, Preschool; D003241:Consanguinity; D002658:Developmental Disabilities / Q000188:drug therapy / Q000209:etiology*; D004035:Diet Therapy; D004827:Epilepsy / Q000175:diagnosis / Q000188:drug therapy / Q000209:etiology*; D005602:France; D006801:Humans; D007980:Levodopa / Q000627:therapeutic use; D008279:Magnetic Resonance Imaging; D008297:Male; D019798:Neopterin / Q000097:blood; D010649:Phenylalanine / Q000097:blood*; D010661:Phenylketonurias
D000927:Anticonvulsants; D001708:Biopterins; D007980:Levodopa; D010649:Phenylalanine; D019798:Neopterin; D006916:5-Hydroxytryptophan
Encéphalopathie progressive convulsivante: penser aux anomalies du métabolisme des bioptérines.