Histidinemia. A case with resolution of myoclonic seizures after treatment with a low-histidine diet.
An infant with histidinemia had a myoclonic seizure disorder that was unresponsive to therapy with anticonvulsants. The seizures stopped promptly after a histidine-restricted diet was instituted. This case suggests that in some individuals with histidinemia, diet therapy may be effective. It is not known what distinguishes this case from previously reported cases in which diet therapy was not effective.
D000592:Amino Acid Metabolism, Inborn Errors / Q000150:complications* / Q000178:diet therapy; D006639:Histidine / Q000097:blood*; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000209:etiology; D007805:Language Development Disorders / Q000209:etiology; D008297:Male; D009207:Myoclonus / Q000209:etiology
D006639:Histidine