Pub Date : 2016-01-01Epub Date: 2016-07-21DOI: 10.12715/ard.2014.3.2
Marjan Shakiba, Fatemeh Mahjoub, Hassan Fazilaty, Fereshteh Rezagholizadeh, Arghavan Shakiba, Maryam Ziadlou, William A Gahl, Babak Behnam
Hypermethioninemia may be benign, present as a nonspecific sign of nongenetic conditions such as liver failure and prematurity, or a severe, progressive inborn error of metabolism. Genetic causes of hypermethioninemia include mitochondrial depletion syndromes caused by mutations in the MPV17 and DGUOK genes and deficiencies of cystathionine β-synthase, methionine adenosyltransferase types I and III, glycine N-methyltransferase, S-adenosylhomocysteine hydrolase, citrin, fumarylacetoacetate hydrolase, and adenosine kinase. Here we present a 3-year old girl with a history of poor feeding, irritability, respiratory infections, cholestasis, congenital heart disease, neurodevelopmental delay, hypotonia, sparse hair, facial dysmorphisms, liver dysfunction, severe hypermethioninemia and mild homocystinemia. Genetic analysis of the adenosine kinase (ADK) gene revealed a previously unreported variant (c.479-480 GA>TG) resulting in a stop codon (p.E160X) in ADK. A methionine-restricted diet normalized the liver function test results and improved her hypotonia.
{"title":"Adenosine kinase deficiency with neurodevelopemental delay and recurrent hepatic dysfunction: A case report.","authors":"Marjan Shakiba, Fatemeh Mahjoub, Hassan Fazilaty, Fereshteh Rezagholizadeh, Arghavan Shakiba, Maryam Ziadlou, William A Gahl, Babak Behnam","doi":"10.12715/ard.2014.3.2","DOIUrl":"https://doi.org/10.12715/ard.2014.3.2","url":null,"abstract":"<p><p>Hypermethioninemia may be benign, present as a nonspecific sign of nongenetic conditions such as liver failure and prematurity, or a severe, progressive inborn error of metabolism. Genetic causes of hypermethioninemia include mitochondrial depletion syndromes caused by mutations in the <i>MPV17</i> and <i>DGUOK</i> genes and deficiencies of cystathionine β-synthase, methionine adenosyltransferase types I and III, glycine N-methyltransferase, S-adenosylhomocysteine hydrolase, citrin, fumarylacetoacetate hydrolase, and adenosine kinase. Here we present a 3-year old girl with a history of poor feeding, irritability, respiratory infections, cholestasis, congenital heart disease, neurodevelopmental delay, hypotonia, sparse hair, facial dysmorphisms, liver dysfunction, severe hypermethioninemia and mild homocystinemia. Genetic analysis of the adenosine kinase (<i>ADK</i>) gene revealed a previously unreported variant (c.479-480 GA>TG) resulting in a stop codon (p.E160X) in <i>ADK</i>. A methionine-restricted diet normalized the liver function test results and improved her hypotonia.</p>","PeriodicalId":91443,"journal":{"name":"Advances in rare diseases","volume":"3 ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2016-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4975537/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"34737947","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
扫码关注我们
求助内容：
应助结果提醒方式：
京公网安备 11010802042870号