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10.1007/s10545-017-0025-7 http://scihub22266oqcxt.onion/10.1007/s10545-017-0025-7 C5393281!5393281 !28255779     free     free     free Deprecated: Implicit conversion from float 231.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 231.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 231.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 231.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 231.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 231.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 231.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 265.2 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Warning: imagejpeg(C:\Inetpub\vhosts\kidney.de\httpdocs\phplern\28255779 .jpg): Failed to open stream: No such file or directory in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 117       J+Inherit+Metab+Dis 2017 ; 40 (3 ): 385-394 Nephropedia Template TP {{tp|p=28255779 |t=2017. Mutations in SLC25A22: hyperprolinaemia, vacuolated fibroblasts and presentation with developmental delay |pdf=|usr=}}{{28255779 }} gab.com Text Mutations in SLC25A22: hyperprolinaemia, vacuolated fibroblasts and presentation with developmental delay JO: J Inherit Metab Dis http://www.kidney.de/pget.php?&tw=1&pmid=28255779 #FOAvip Mutations in SLC25A22 are known to cause neonatal epileptic encephalopathy and migrating partial seizures in infancy. Using whole exome sequencing we identified four novel SLC25A22 mutations in six children from three families. Five patients presented clinical features similar to those in the literature including hypotonia, refractory neonatal-onset seizures and developmental delay. However, the sixth patients presented atypically with isolated developmental delay, developing late-onset (absence) seizures only at 7 years of age. Abnormal metabolite levels have not been documented in the nine patients described previously. One patient in our series was referred to the metabolic clinic because of persistent hyperprolinaemia and another three had raised plasma proline when tested. Analysis of the post-prandial plasma amino acid response in one patient showed abnormally high concentrations of several amino acids. This suggested that, in the fed state, when amino acids are the preferred fuel for the liver, trans-deamination of amino acids requires transportation of glutamate into liver mitochondria by SLC25A22 for deamination by glutamate dehydrogenase; SLC25A22 is an important mitochondrial glutamate transporter in liver as well as in brain. Electron microscopy of patient fibroblasts demonstrated widespread vacuolation containing neutral and phospho-lipids as demonstrated by Oil Red O and Sudan Black tinctorial staining; this might be explained by impaired activity of the proline/pyrroline-5-carboxylate (P5C) shuttle if SLC25A22 transports pyrroline-5-carboxylate/glutamate-?-semialdehyde as well as glutamate. Twit Text FOAVip Mutations in SLC25A22: hyperprolinaemia, vacuolated fibroblasts and presentation with developmental delay ????J Inherit Metab Dis http://www.kidney.de/pget.php?&tw=1&pmid=28255779 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=28255779 #FOAvip English Wikipedia <ref>{{Cite pmid|28255779 }}</ref> Mutations in SLC25A22: hyperprolinaemia, vacuolated fibroblasts and presentation with developmental delay #MMPMID28255779 Reid ES ; Williams H ; Anderson G ; Benatti M ; Chong K ; James C ; Ocaka L ; Hemingway C ; Little D ; Brown R ; Parker A ; Holden S ; Footitt E ; Rahman S ; Gissen P ; Mills PB ; Clayton PT J Inherit Metab Dis 2017[May]; 40 (3 ): 385-394 PMID28255779 show ga Mutations in SLC25A22 are known to cause neonatal epileptic encephalopathy and migrating partial seizures in infancy. Using whole exome sequencing we identified four novel SLC25A22 mutations in six children from three families. Five patients presented clinical features similar to those in the literature including hypotonia, refractory neonatal-onset seizures and developmental delay. However, the sixth patients presented atypically with isolated developmental delay, developing late-onset (absence) seizures only at 7 years of age. Abnormal metabolite levels have not been documented in the nine patients described previously. One patient in our series was referred to the metabolic clinic because of persistent hyperprolinaemia and another three had raised plasma proline when tested. Analysis of the post-prandial plasma amino acid response in one patient showed abnormally high concentrations of several amino acids. This suggested that, in the fed state, when amino acids are the preferred fuel for the liver, trans-deamination of amino acids requires transportation of glutamate into liver mitochondria by SLC25A22 for deamination by glutamate dehydrogenase; SLC25A22 is an important mitochondrial glutamate transporter in liver as well as in brain. Electron microscopy of patient fibroblasts demonstrated widespread vacuolation containing neutral and phospho-lipids as demonstrated by Oil Red O and Sudan Black tinctorial staining; this might be explained by impaired activity of the proline/pyrroline-5-carboxylate (P5C) shuttle if SLC25A22 transports pyrroline-5-carboxylate/glutamate-?-semialdehyde as well as glutamate. |Amino Acid Metabolism, Inborn Errors/*genetics/metabolism [MESH] |Child [MESH] |Child, Preschool [MESH] |Developmental Disabilities/*genetics [MESH] |Female [MESH] |Fibroblasts/*metabolism [MESH] |Glutamic Acid/metabolism [MESH] |Humans [MESH] |Infant [MESH] |Infant, Newborn [MESH] |Male [MESH] |Mitochondria, Liver/genetics/metabolism [MESH] |Mitochondria/genetics/metabolism [MESH] |Mitochondrial Membrane Transport Proteins/*genetics [MESH] |Muscle Hypotonia/genetics/metabolism [MESH] |Mutation/*genetics [MESH] |Proline/metabolism [MESH]Mutations in SLC25A22: hyperprolinaemia, vacuolated fibroblasts and pr(epmc).pdf DeepDyve Pubget Overpricing