English Journal
- Renal dysfunction in methylmalonic acidurias: review for the pediatric nephrologist.
- Morath MA, Hörster F, Sauer SW.SourceDepartment of General Pediatrics, Division of Inborn Metabolic Diseases, University Children's Hospital Heidelberg, Im Neuenheimer Feld 430, 69120, Heidelberg, Germany, marina.morath@med.uni-heidelberg.de.
- Pediatric nephrology (Berlin, Germany).Pediatr Nephrol.2013 Feb;28(2):227-35. doi: 10.1007/s00467-012-2245-2. Epub 2012 Jul 20.
- Methylmalonic acidurias are a heterogeneous group of inborn errors of branched-chain amino acid metabolism. Depending on the underlying etiology, acute or chronic renal disease constitutes major (long-term) complications. In recent decades, overall survival has improved due to optimized treatment st
- PMID 22814947
- Expanded newborn screening and confirmatory follow-up testing for inborn errors of metabolism detected by tandem mass spectrometry.
- Ozben T.AbstractAbstract Newborn screening (NBS) of inborn errors of metabolism (IEM) is a coordinated comprehensive system consisting of education, screening, follow-up of abnormal test results, confirmatory testing, diagnosis, treatment, and evaluation of periodic outcome and efficiency. The ultimate goal of NBS and follow-up programs is to reduce morbidity and mortality from the disorders. Over the past decade, tandem mass spectrometry (MS/MS) has become a key technology in the field of NBS. It has replaced classic screening techniques of one-analysis, one-metabolite, one-disease with one analysis, many-metabolites, and many-diseases. The development of electrospray ionization (ESI), automation of sample handling and data manipulation have allowed the introduction of expanded NBS for the identification of numerous conditions on a single sample and new conditions to be added to the list of disorders being screened for using MS/MS. In the case of a screened positive result, a follow-up analytical test should be performed for confirmation of the primary result. The most common confirmatory follow-up tests are amino acids and acylcarnitine analysis in plasma and organic acid analysis in urine. NBS should be integrated with follow-up and clinical management. Recent improvements in therapy have caused some disorders to be considered as potential candidates for NBS. This review covers some of the basic theory of expanded MS/MS and follow-up confirmatory tests applied for NBS of IEM.
- Clinical chemistry and laboratory medicine : CCLM / FESCC.Clin Chem Lab Med.2013 Jan 1;51(1):157-76. doi: 10.1515/cclm-2012-0472.
- Abstract Newborn screening (NBS) of inborn errors of metabolism (IEM) is a coordinated comprehensive system consisting of education, screening, follow-up of abnormal test results, confirmatory testing, diagnosis, treatment, and evaluation of periodic outcome and efficiency. The ultimate goal of NBS
- PMID 23183752
- Molecular basis of albinism in India: evaluation of seven potential candidate genes and some new findings.
- Mondal M, Sengupta M, Samanta S, Sil A, Ray K.SourceMolecular & Human Genetics Division, CSIR-Indian Institute of Chemical Biology, Kolkata-700032, India. maitreyee.bonny@gmail.com
- Gene.Gene.2012 Dec 15;511(2):470-4. doi: 10.1016/j.gene.2012.09.012. Epub 2012 Sep 23.
- Albinism represents a group of genetic disorders with a broad spectrum of hypopigmentary phenotypes dependent on the genetic background of the patients. Oculocutaneous albinism (OCA) patients have little or no pigment in their eyes, skin and hair, whereas ocular albinism (OA) primarily presents the
- PMID 23010199
Related Links
- aminoacidopathy /ami·no·ac·i·dop·a·thy/ (-as″ĭ-dop´ah-the) any of a group of disorders due to a defect in an enzymatic step in the metabolic pathway of one or more amino acids or in a protein mediator necessary for transport of certain amino ...
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★リンクテーブル★
| リンク元 | 「アミノ酸代謝異常症」 |
「アミノ酸代謝異常症」
- 英
- aminoacidopathy, disorder of aminoacid metabolism disorders of amino acid metabolism
- 同
- アミノ酸代謝異常、先天性アミノ酸代謝異常症 先天性アミノ酸代謝異常 inborn error of amino acid metabolism
アミノ酸代謝異常症
- 国試で出たことが有るレベル
- 白化 albinism
- アルカプトン尿症 alkaptonuria
- 非ケトーシス型高グリシン血症 nonketotic hyperglycinemia
- 高ホモシステイン血症 hyperhomocysteinemia
- 高リジン血症 hyperlysinemia
- メープルシロップ尿症 maple syrup urine disease
- 多種アシルCoA脱水素酵素欠損症 multiple acyl-coenzyme A dehydrogenase deficiency
- マルチプルカルボキシラーゼ欠損症 multiple carboxylase deficiency
- フェニルケトン尿症 phenylketonuria
- プロピオン酸血症 propionic acidemia
- チロシン血症 tyrosinemia
- 先天性尿素回路代謝異常 inborn urea cycle disorder