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1. 有機酸血症 organic acidemias
2. 先天性代謝異常症の分類の概要 overview of the classification of inborn errors of metabolism
3. ビタミンB12および葉酸欠乏症の診断および治療 diagnosis and treatment of vitamin b12 and folic acid deficiency
4. 先天性代謝異常症の特徴的な症状 presenting features of inborn errors of metabolism
5. 幼児および小児における低血糖症の病因 etiology of hypoglycemia in infants and children

English Journal

de Sain-van der Velden MG, Diekman EF, Jans JJ, van der Ham M, Prinsen BH, Visser G, Verhoeven-Duif NM.SourceDepartment of Medical Genetics, UMC Utrecht, The Netherlands Wilhelmina Children's Hospital, University Medical Centre (UMC) Utrecht, Utrecht, The Netherlands. Electronic address: m.g.desain@umcutrecht.nl.
Molecular genetics and metabolism.Mol Genet Metab.2013 Sep-Oct;110(1-2):116-21. doi: 10.1016/j.ymgme.2013.04.008. Epub 2013 Apr 13.
Quantification of acylcarnitines is used for screening and diagnosis of inborn error of metabolism (IEM). While newborn screening is performed in dried blood spots (DBSs), general metabolic investigation is often performed in plasma. Information on the correlation between plasma and DBS acylcarnitin
PMID 23639448

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

[Abnormal findings during newborn period of 160 patients with early-onset methylmalonic aciduria].

Liu YP, Ma YY, Wu TF, Wang Q, Li XY, Ding Y, Song JQ, Huang Y, Yang YL.SourceDepartment of Pediatrics, Peking University First Hospital, Beijing, China.
Zhonghua er ke za zhi. Chinese journal of pediatrics.Zhonghua Er Ke Za Zhi.2012 Jun;50(6):410-4.
OBJECTIVE: Methylmalonic aciduria is the most common disorder of organic acidurias in the mainland of China. It is also the one of treatable metabolic disorders. The clinical spectrum of the patients varies from severe neonatal-onset forms with neonatal brain injury and high mortality to milder form
PMID 22931934

Rapid Profiling of Urinary Organic Acids Due to Inherited Metabolic Disorders by Liquid Ionization Mass Spectrometry