Titlebook: JIMD Reports, Volume 31; Eva Morava,Matthias Baumgartner,Verena Peters Book 2017 SSIEM and Springer-Verlag Berlin Heidelberg 2017 inherite

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Glycine ,-Methyltransferase Deficiency: A Member of Dysmethylating Liver Disorders?,ermanent hypermethioninemia. This disorder has been considered as probably benign because moderate hepatomegaly in two patients was the only obvious symptom and mild to moderate elevation of aminotransferases the only laboratory abnormality. Our experience with the current novel patient points out t

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Disease Heterogeneity in Na+/Citrate Cotransporter Deficiency,ay and intractable seizures consistent with previous reports of SLC13A5 transporter deficiency. Both had two mutations in the . gene, c.655G>A (G219R) and the novel mutation c.245A>G (Y82C). However, the phenotypes were not identical as the female had focal cortical dysplasia that led to brain surge

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978-3-662-54118-0SSIEM and Springer-Verlag Berlin Heidelberg 2017

提名

JIMD Reports, Volume 31978-3-662-54119-7Series ISSN 2192-8304 Series E-ISSN 2192-8312

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Switch from Sodium Phenylbutyrate to Glycerol Phenylbutyrate Improved Metabolic Stability in an Adoammonemic crises throughout childhood and early adolescence, which continued after the addition of sodium phenylbutyrate in 2009. In December 2013 he was switched to glycerol phenylbutyrate, and his metabolic stability was greatly improved over the following 7 months prior to liver transplant.