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10.1016/j.ymgme.2018.02.008 http://scihub22266oqcxt.onion/10.1016/j.ymgme.2018.02.008 29526615!ä!29526615 Deprecated: Implicit conversion from float 211.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 211.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 211.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 211.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 211.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 211.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 245.2 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534       Mol+Genet+Metab 2018 ; 124 (1): 57-63 Nephropedia Template TP {{tp|p=29526615|t=2018. Response to medical and a novel dietary treatment in newborn screen identified patients with ethylmalonic encephalopathy |pdf=|usr=}}{{29526615}} gab.com Text Response to medical and a novel dietary treatment in newborn screen identified patients with ethylmalonic encephalopathy JO: Mol Genet Metab http://www.kidney.de/pget.php?&tw=1&pmid=29526615 #FOAvip Ethylmalonic encephalopathy (EE) is a devastating neurodegenerative disease caused by mutations in the ETHE1 gene critical for hydrogen sulfide (H(2)S) detoxification. Patients present in infancy with hypotonia, developmental delay, diarrhea, orthostatic acrocyanosis and petechiae. Biochemical findings include elevated C4, C5 acylcarnitines and lactic and ethylmalonic acid (EMA) in body fluids. Current treatment modalities include metronidazole and N-acetylcysteine (NAC) to lower the production and promote detoxification of toxic H(2)S. Patients are typically identified after the onset of clinical symptoms and there is limited information about long term response to treatment. We report the findings of two unrelated patients with EE, identified through newborn screening, who were managed with conventional treatment (NAC, metronidazole alternated with neomycin) and in patient 2, a novel dietary treatment restricting sulfur containing amino acids. Pathogenic mutations were confirmed in the ETHE1 gene (homozygous splice site mutation in patient 1, c.505?+?1G?>?A; compound heterozygous mutations in patient 2, c.131_132delAG?+?c.566delG). Both patients were started on metronidazole and NAC by 10?weeks of age and treated for 23?months. Patient 1 did not accept the metabolic formula due to palatability and parental refusal for gastrostomy tube placement. She demonstrated improved biomarkers (EMA, lactic acid and thiosulfate) and an attenuated clinical course. Patient 2 was started on a low methionine and cysteine diet at 8?months of age utilizing SOD Anamix(R) Early Years, (Nutricia). Baseline EMA levels were (642?mg/g Cr; n?=?2) and decreased with medical treatment by 38% to a mean of 399 (n?=?4, SD?=?71, p 0.0013). With dietary treatment EMA levels were further reduced by 42% to a mean of 233 (n?=?8, SD?=?52, p 0.0030). Lactic acid, thiosulfates and clinical outcomes were also improved. Our long-term follow-up confirms previous reports of clinical improvement with NAC and metronidazole treatment. Additionally, our studies suggest that a diet restricted in sulfur-containing amino acids results in further improvement in clinical outcomes and biochemical markers. Twit Text FOAVip Response to medical and a novel dietary treatment in newborn screen identified patients with ethylmalonic encephalopathy ????Mol Genet Metab http://www.kidney.de/pget.php?&tw=1&pmid=29526615 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=29526615 #FOAvip English Wikipedia <ref>{{Cite pmid|29526615}}</ref> Response to medical and a novel dietary treatment in newborn screen identified patients with ethylmalonic encephalopathy #MMPMID29526615 Boyer M; Sowa M; Di Meo I; Eftekharian S; Steenari MR; Tiranti V; Abdenur JE Mol Genet Metab 2018[May]; 124 (1): 57-63 PMID29526615show ga Ethylmalonic encephalopathy (EE) is a devastating neurodegenerative disease caused by mutations in the ETHE1 gene critical for hydrogen sulfide (H(2)S) detoxification. Patients present in infancy with hypotonia, developmental delay, diarrhea, orthostatic acrocyanosis and petechiae. Biochemical findings include elevated C4, C5 acylcarnitines and lactic and ethylmalonic acid (EMA) in body fluids. Current treatment modalities include metronidazole and N-acetylcysteine (NAC) to lower the production and promote detoxification of toxic H(2)S. Patients are typically identified after the onset of clinical symptoms and there is limited information about long term response to treatment. We report the findings of two unrelated patients with EE, identified through newborn screening, who were managed with conventional treatment (NAC, metronidazole alternated with neomycin) and in patient 2, a novel dietary treatment restricting sulfur containing amino acids. Pathogenic mutations were confirmed in the ETHE1 gene (homozygous splice site mutation in patient 1, c.505?+?1G?>?A; compound heterozygous mutations in patient 2, c.131_132delAG?+?c.566delG). Both patients were started on metronidazole and NAC by 10?weeks of age and treated for 23?months. Patient 1 did not accept the metabolic formula due to palatability and parental refusal for gastrostomy tube placement. She demonstrated improved biomarkers (EMA, lactic acid and thiosulfate) and an attenuated clinical course. Patient 2 was started on a low methionine and cysteine diet at 8?months of age utilizing SOD Anamix(R) Early Years, (Nutricia). Baseline EMA levels were (642?mg/g Cr; n?=?2) and decreased with medical treatment by 38% to a mean of 399 (n?=?4, SD?=?71, p 0.0013). With dietary treatment EMA levels were further reduced by 42% to a mean of 233 (n?=?8, SD?=?52, p 0.0030). Lactic acid, thiosulfates and clinical outcomes were also improved. Our long-term follow-up confirms previous reports of clinical improvement with NAC and metronidazole treatment. Additionally, our studies suggest that a diet restricted in sulfur-containing amino acids results in further improvement in clinical outcomes and biochemical markers. |*Neonatal Screening[MESH] |Acetylcysteine/therapeutic use[MESH] |Amino Acids/*administration & dosage/chemistry[MESH] |Biomarkers[MESH] |Brain Diseases, Metabolic, Inborn/diagnosis/*diet therapy/*drug therapy[MESH] |Cysteine[MESH] |Diet/methods[MESH] |Female[MESH] |Humans[MESH] |Infant[MESH] |Infant, Newborn[MESH] |Lactic Acid/analysis[MESH] |Male[MESH] |Malonates/analysis[MESH] |Methionine[MESH] |Metronidazole/therapeutic use[MESH] |Mitochondrial Proteins/genetics[MESH] |Mutation[MESH] |Nucleocytoplasmic Transport Proteins/genetics[MESH] |Purpura/diagnosis/*diet therapy/*drug therapy[MESH]Response to medical and a novel dietary treatment in newborn screen id(epmc).pdf DeepDyve Pubget Overpricing