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Síndromes de deficiência em creatina cerebral: 13 anos de experiência em Portugal
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Advisor(s)
Abstract(s)
Os síndromes da deficiência em creatina cerebral são um grupo de erros
inatos do metabolismo da creatina que incluem as deficiências de síntese
da creatina: arginina:glicina amidinotransferase (AGAT) e S-adenosil-
L-metionina:guanidinoacetato metiltransferase (GAMT) e a deficiência
no transportador transmembranar (CT1/SLC6A8). O diagnóstico destas
patologias pode ser efetuado através da determinação do ácido guanidinoacético
e creatina urinária e plasmática e do estudo molecular. Desde
2003 que a Unidade de Rastreio Neonatal, Metabolismo e Genética
(URN) disponibiliza este tipo de diagnóstico que permitiu a identificação
de nove doentes com deficiência em GAMT e 20 doentes com deficiência
em CT1. O rastreio bioquímico das deficiências em creatina cerebral
deve ser realizado em todos os doentes que apresentem encefalopatia
epiléptica de causa desconhecida, doença do movimento, alterações
cognitivas e comportamento tipo autista.
Cerebral creatine deficiency syndromes are a group of rare inborn errors of creatine metabolism that include arginine:glycine amidinotransferase (AGAT) deficiency, S-adenosyl-L-methionine:guanidinoacetate methyltransferase (GAMT) deficiency, and the creatine transporter (CT1/SLC6A8) deficiency. All creatine disorders can be investigated through measurement of creatine metabolites in body fluids, and molecular genetics techniques. Since 2003, we have been performing the diagnosis of this group of disorders and encountered nine patients with GAMT deficiency and 20 with CT1 deficiency in the Portuguese population. Biochemical screening for creatine deficiency syndromes should be part of diagnostic workup for all patients presenting with epileptic encephalopathy of unknown origin, movement disorders, mental disability, and autistic-like behavior.
Cerebral creatine deficiency syndromes are a group of rare inborn errors of creatine metabolism that include arginine:glycine amidinotransferase (AGAT) deficiency, S-adenosyl-L-methionine:guanidinoacetate methyltransferase (GAMT) deficiency, and the creatine transporter (CT1/SLC6A8) deficiency. All creatine disorders can be investigated through measurement of creatine metabolites in body fluids, and molecular genetics techniques. Since 2003, we have been performing the diagnosis of this group of disorders and encountered nine patients with GAMT deficiency and 20 with CT1 deficiency in the Portuguese population. Biochemical screening for creatine deficiency syndromes should be part of diagnostic workup for all patients presenting with epileptic encephalopathy of unknown origin, movement disorders, mental disability, and autistic-like behavior.
Description
Keywords
Creatina Cerebral Síndromes de Deficiência Creatina GAMT AGAT Doenças Neurometabólicas Raras Doenças Metabólicas Doenças Genéticas Portugal
Pedagogical Context
Citation
Boletim Epidemiológico Observações. 2017 janeiro-abril;6(18):18-23
Publisher
Instituto Nacional de Saúde Doutor Ricardo Jorge, IP