RESUMO
Two siblings had what we believe to be a unique disorder manifested by stationary congenital ichthyosiform erythroderma coupled with a slowly progressive spastic weakness of adult onset. The disorder was presumably inherited as an autosomal recessive trait. The mechanism by which a genetic mutation would mediate this multiple organ system disorder is unknown.
Assuntos
Ictiose/congênito , Espasticidade Muscular/complicações , Adulto , Fatores Etários , Feminino , Humanos , Ictiose/complicações , Ictiose/genética , Inteligência , Masculino , Pessoa de Meia-Idade , Espasticidade Muscular/genética , SíndromeRESUMO
A specific, isocratic HPLC assay procedure for guanidine hydrochloride is developed. A key step in the procedure, pre-column derivatization with acetylacetone, is performed under conditions that permit direct injection of the reaction mixture onto an HPLC column. Specific directions for carrying out the derivatization are given and the effects of reaction variables are discussed. In addition, chromatographic conditions are given for the separation of the derivative formed from other components of the reaction mixture. The derivatization also is demonstrated to be applicable to guanidine carbonate, nitrate, and sulfate.