Complicated optic atrophy (Bher's disease) associated with epilepsy and amino acid imbalance.
A case of Behr's disease (complicated optic atrophy) associated with epilepsy and with imbalance of the free amino acid pool in plasma and cerebrospinal fluid, quite similar to that identified in patients with hereditary ataxias, is reported. The latter finding stands for a closer correlation between the two clinical entities.
D000328:Adult; D000596:Amino Acids / Q000097:blood / Q000134:cerebrospinal fluid / Q000378:metabolism*; D001259:Ataxia / Q000235:genetics; D004827:Epilepsy / Q000150:complications* / Q000235:genetics / Q000378:metabolism; D005260:Female; D006801:Humans; D066298:In Vitro Techniques; D008297:Male; D008659:Metabolic Diseases / Q000150:complications*; D009896:Optic Atrophy / Q000150:complications / Q000235:genetics* / Q000378:metabolism; D013577:Syndrome
D000596:Amino Acids