RESUMO
Glutathione synthetase deficiency is a rare autosomal recessive disorder resulting in low levels of glutathione and an increased susceptibility to oxidative stress. Patients with glutathione synthetase deficiency typically present in the neonatal period with hemolytic anemia, metabolic acidosis and neurological impairment. Lifelong treatment with antioxidants has been recommended in an attempt to prevent morbidity and mortality associated with the disorder. Here, we present a 19-year-old female who was diagnosed with glutathione synthetase deficiency shortly after birth and who has been closely followed in our metabolic clinic. Despite an initial severe presentation, she has had normal intellectual development and few complications of her disorder with a treatment regimen that includes polycitra (citric acid, potassium citrate and sodium citrate), vitamin C, vitamin E and selenium.
Assuntos
Erros Inatos do Metabolismo dos Aminoácidos/diagnóstico , Glutationa Sintase/deficiência , Acidose/diagnóstico , Acidose/genética , Acidose/metabolismo , Adolescente , Erros Inatos do Metabolismo dos Aminoácidos/genética , Erros Inatos do Metabolismo dos Aminoácidos/metabolismo , Criança , Desenvolvimento Infantil , Pré-Escolar , Ativação Enzimática , Feminino , Seguimentos , Glutationa/metabolismo , Glutationa Sintase/genética , Glutationa Sintase/metabolismo , Humanos , Lactente , Fenótipo , Índice de Gravidade de Doença , Adulto JovemRESUMO
The copper-catalyzed diboration of aldehydes was used in conjunction with the Matteson homologation, providing the efficient synthesis of ß-hydroxyboronate esters. The oxygen-bound boronate ester was found to play a key role in mediating the homologation reaction, which was compared to the α-hydroxyboronate ester (isolated hydrolysis product). The synthetic utility of the diboration/homologation sequence was demonstrated through the oxidation of one product to provide a 1,2-diol.
Assuntos
Aldeídos/química , Ácidos Borônicos/síntese química , Cobre/química , Álcoois/síntese química , Álcoois/química , Ácidos Borônicos/química , Catálise , Ésteres , Estrutura Molecular , Oxirredução , EstereoisomerismoRESUMO
A streamlined synthesis of ß-hydroxy ketone substrates has been developed to further investigate a recently discovered cooperative Lewis base-mediated intramolecular carbonyl hydrosilylation reaction. The synthesis features an enone ß-borylation/oxidation sequence that has proven to be quite general and high-yielding. This has allowed for additional investigations into the diastereoselectivity of the hydrosilylation reaction through the preparation of important polyketide fragments.
