Biochemical diagnosis of creatine deficiency syndromes / Diagnóstico bioquímico das síndromes de deficiência de creatina

AUTOR(ES)
DATA DE PUBLICAÇÃO

2010

RESUMO

Recently, a new group of inborn errors of metabolism, collectively named as creatine deficiency syndrome, was identified. Three genetically determined presentations are currently known, affecting both creatine synthesis and transport. Clinical presentation spectrum is non-specific and includes developmental delay, hypotonia, involuntary movements as choreoathetosis, delay or lack of speech acquisition, mental retardation of variable severity, autistic behavior, and epilepsy. Herein, we developed and validated an innovative method for determination of creatine and of its metabolic intermediate, guanidinoacetate, based on cation-exchange solid-phase extraction and hydrophilic interaction liquid chromatography coupled to tandem mass spectrometry. Reference values for the method were defined testing 150 urine and 197 serum samples in males and females with age ranging from 0 to 16 years. Urine and serum samples from 54 patients with some clinical features that might be attributable to creatine deficiency were also evaluated, and in three, biochemical profile characteristic of one of the disorders was detected

ASSUNTO(S)

creatine/deficiency creatina/genética técnicas e procedimentos de laboratório espectrometria de massas em tandem creatina/deficiência creatine/genetics laboratory techniques and procedures. guanidinoacetato tandem mass spectrometry liquid chromatography cromatografia líquida guanidinoacetate

ACESSO AO ARTIGO

Documentos Relacionados