RESUMO
AIM: Molybdenum co-factor deficiencies and isolated sulfite oxidase deficiency are rare autosomal recessively inherited diseases characterized by severe psychomotor impairment, intractable seizures, dislocated lens and dysmorphic facial features. The biochemical diagnosis of these diseases requires the determination of urine sulfocysteine. MATERIALS & METHODS: Urine sulfocysteine was quantified by an ultra-high performance liquid chromatography-MS/MS assay. The method was validated for linearity, accuracy, precision, recovery and stability. RESULTS & CONCLUSION: Total imprecision of accuracy was less than 6%. Intra-assay and inter-assay precisions were less than 5%. The recovery was higher than 98%. The method is inexpensive, fast, accurate and has been successfully used for identifying five molybdenum co-factor deficient and six sulfite oxidase deficient patients since deployed.
Assuntos
Erros Inatos do Metabolismo dos Aminoácidos/diagnóstico , Erros Inatos do Metabolismo dos Aminoácidos/urina , Cisteína/análogos & derivados , Molibdênio/deficiência , Sulfito Oxidase/deficiência , Urinálise/métodos , Cromatografia Líquida de Alta Pressão , Coenzimas/deficiência , Cisteína/urina , Humanos , Limite de Detecção , Modelos Lineares , Sulfito Oxidase/urina , Espectrometria de Massas em Tandem , Fatores de TempoRESUMO
No disponible
Assuntos
Humanos , Masculino , Recém-Nascido , Sulfito Oxidase/deficiência , Encefalopatias Metabólicas/diagnóstico por imagem , Sulfito Oxidase/urina , Neuroimagem/métodos , Espectroscopia de Ressonância Magnética/métodosRESUMO
Isolated sulfite oxidase deficiency is a rare, autosomal recessive disease with a very poor prognosis. This condition usually presents in the neonatal period and is mainly characterized by neurological abnormalities, including refractory seizures, abnormal muscle tone, abnormal movements, and marked developmental delay. The differentiation from hypoxic-ischemic encephalopathy is difficult based on clinical findings alone. We present a neonatal case
Assuntos
Erros Inatos do Metabolismo dos Aminoácidos/diagnóstico , Sulfito Oxidase/deficiência , Erros Inatos do Metabolismo dos Aminoácidos/sangue , Erros Inatos do Metabolismo dos Aminoácidos/urina , Encéfalo/patologia , Cisteína/análogos & derivados , Cisteína/urina , Diagnóstico Diferencial , Ecoencefalografia/métodos , Eletroencefalografia/métodos , Feminino , Homocisteína/sangue , Humanos , Hipoxantina/urina , Recém-Nascido , Imageamento por Ressonância Magnética/métodos , Doenças Raras , Sulfito Oxidase/sangue , Sulfito Oxidase/urina , Sulfitos/urina , Taurina/urina , Xantina/urinaRESUMO
Analysis of α-aminoadipic semialdehyde is an important tool in the diagnosis of antiquitin deficiency (pyridoxine-dependent epilepsy). However continuing use of this test has revealed that elevated urinary excretion of α-aminoadipic semialdehyde is not only found in patients with pyridoxine-dependent epilepsy but is also seen in patients with molybdenum cofactor deficiency and isolated sulphite oxidase deficiency. This should be taken into account when interpreting the laboratory data. Sulphite was shown to inhibit α-aminoadipic semialdehyde dehydrogenase in vitro.
Assuntos
Ácido 2-Aminoadípico/análogos & derivados , Erros Inatos do Metabolismo dos Aminoácidos/urina , Coenzimas/deficiência , Erros Inatos do Metabolismo dos Metais/urina , Metaloproteínas/deficiência , Oxirredutases atuantes sobre Doadores de Grupo Enxofre/deficiência , Ácido 2-Aminoadípico/urina , Adolescente , Erros Inatos do Metabolismo dos Aminoácidos/metabolismo , Criança , Cisteína/análogos & derivados , Cisteína/farmacologia , Humanos , Recém-Nascido , L-Aminoadipato-Semialdeído Desidrogenase/antagonistas & inibidores , Lisina/metabolismo , Redes e Vias Metabólicas , Erros Inatos do Metabolismo dos Metais/metabolismo , Modelos Biológicos , Cofatores de Molibdênio , Molibdoferredoxina/metabolismo , Molibdoferredoxina/urina , Pteridinas , Sulfito Oxidase/deficiência , Sulfito Oxidase/metabolismo , Sulfito Oxidase/urina , Sulfitos/farmacologiaRESUMO
Isolated sulfite oxidase deficiency is a rare neurometabolic disorder that closely mimics hypoxic ischemic encephalopathy both clinically and radiologically. Phenotypic and imaging observations in 2 children (aged 14 months and 8 years) with this disease are described. Both had profound mental retardation, microcephaly, spastic quadriparesis, and uncontrolled seizures from the neonatal period. Diagnosis was established by demonstrating the presence of sulfites in urine and genetic analysis. Magnetic resonance imaging of the brain revealed severe cystic leukomalacia, cortical atrophy with ulegyric pattern, and cerebellar hypoplasia that progressed over time in both the patients. Early diagnosis of this devastating disorder will provide an opportunity for genetic counseling and prenatal testing.
