Korean
Albanian
Arabic
Armenian
Azerbaijani
Belarusian
Bengali
Bosnian
Catalan
Czech
Danish
Deutsch
Dutch
English
Estonian
Finnish
Français
Greek
Haitian Creole
Hebrew
Hindi
Hungarian
Icelandic
Indonesian
Irish
Italian
Japanese
Korean
Latvian
Lithuanian
Macedonian
Mongolian
Norwegian
Persian
Polish
Portuguese
Romanian
Russian
Serbian
Slovak
Slovenian
Spanish
Swahili
Swedish
Turkish
Ukrainian
Vietnamese
Български
中文(简体)
中文(繁體)
Investigacion Clinica 2008-Dec

[Primary hiperoxaluria: a new mutation in gen AGXT (R197Q) cause of neonatal convulsions].

등록 된 사용자 만 기사를 번역 할 수 있습니다.
로그인 / 가입
링크가 클립 보드에 저장됩니다.
José Guevara-Campos
Débora Riverol
Lucía González-Guevara
Rubin Tinedo

키워드

요약

Primary hyperoxaluria is a congenital innate error of the metabolism of the amino acids, that is transmitted like an autosomal recessive character. Two types of hyperoxaluria exist: the primary type I, that corresponds to the peroxisomal enzymatic deficit of the alanine glyoxylate aminotransferase in the liver (AGT) and type II, due to the deficit of the glyoxylate reductase/hydroxypyruvate reductase deficiency (GRHPR). The primary type I (AGT) is the most frequenty. We report the case of a female infant of one month of age, that on her first day post birth, presented myoclonic convulsions and tonic spasms, both during wakefullness and sleep periods, that became more frequent and did not respond to the use of anticonvulsants. The ictal Electroencephalogram presented an intermittent activity of spikes and spike-waves of high voltage in the right hemisphere. Eight minutes after the intravenous administration of 150 mg of pyridoxine, it was observed a diminution of the epileptic activity, as well as the clinical manifestations. The determination of organic acids in urine revealed an increase in the concentration levels of oxalic acid (3064 mmol/mol of creatinine). The molecular genetic study of the AGXT gene, showed the existence of a R197Q mutation in exón 5 of the patient and her father. She received treatment with pyridoxine at a dose of 50 mg/day. When she reached the age of three months both a normal electroencephalogram and biochemistry were obtained. Although it is a rare cause of neonatal convulsions, hyperoxaluria, due to new mutations is an underdiagnosed disease by neonatologists and paediatricias.

페이스 북
페이지에 가입하세요

과학이 뒷받침하는 가장 완벽한 약초 데이터베이스

  • 55 개 언어로 작동
  • 과학이 뒷받침하는 약초 치료제
  • 이미지로 허브 인식
  • 인터랙티브 GPS지도-위치에 허브 태그 지정 (출시 예정)
  • 검색과 관련된 과학 출판물 읽기
  • 효과로 약초 검색
  • 관심사를 정리하고 뉴스 연구, 임상 실험 및 특허를 통해 최신 정보를 확인하세요.

증상이나 질병을 입력하고 도움이 될 수있는 약초에 대해 읽고 약초를 입력하고 사용되는 질병과 증상을 확인합니다.
* 모든 정보는 발표 된 과학 연구를 기반으로합니다.

Google Play badgeApp Store badge