{"id":229164,"date":"2026-01-16T09:21:59","date_gmt":"2026-01-16T15:21:59","guid":{"rendered":"https:\/\/lifeboat.com\/blog\/2026\/01\/clinical-features-pedigrees-mri-and-liver-pathology-of-patients-carrying-heterozygous-p-glu230lys"},"modified":"2026-01-16T09:21:59","modified_gmt":"2026-01-16T15:21:59","slug":"clinical-features-pedigrees-mri-and-liver-pathology-of-patients-carrying-heterozygous-p-glu230lys","status":"publish","type":"post","link":"https:\/\/lifeboat.com\/blog\/2026\/01\/clinical-features-pedigrees-mri-and-liver-pathology-of-patients-carrying-heterozygous-p-glu230lys","title":{"rendered":"Clinical features, pedigrees, MRI, and liver pathology of patients carrying heterozygous p.Glu230Lys"},"content":{"rendered":"<p><a class=\"aligncenter blog-photo\" href=\"https:\/\/lifeboat.com\/blog.images\/clinical-features-pedigrees-mri-and-liver-pathology-of-patients-carrying-heterozygous-p-glu230lys.jpg\"><\/a><\/p>\n<p>This Research Letter describes a new molecular basis for lipodystrophy syndromes.<\/p>\n<p>Abhimanyu Garg &amp; team report on a variant in ACAA2 that causes hepatitis and hypoglycemia during infancy and lipodystrophy during adulthood accompanied by elevated plasma long chain acylcarnitines.<\/p>\n<hr>\n<p>Address correspondence to: Abhimanyu Garg, 5,323 Harry Hines Boulevard, Dallas, Texas 75,390, USA. Phone: 214.648.2895; Email: <a href=\"mailto:abhimanyu.garg@utsouthwestern.edu\">abhimanyu.garg@utsouthwestern.edu<\/a>.<\/p>\n<p>Find articles by Simha, V. in: <a target=\"_blank\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=search&db=pubmed&term=Simha+V[au>&dispmax=50\"]PubMed<\/a> | <a target=\"_blank\" href=\"https:\/\/scholar.google.com\/scholar?q=%22author%3AV+Simha%22\">Google Scholar<\/a><\/p>\n<p><sup>1<\/sup>Mayo Clinic, Rochester, Minnesota, USA.<\/p>\n","protected":false},"excerpt":{"rendered":"<p>This Research Letter describes a new molecular basis for lipodystrophy syndromes. Abhimanyu Garg &amp; team report on a variant in ACAA2 that causes hepatitis and hypoglycemia during infancy and lipodystrophy during adulthood accompanied by elevated plasma long chain acylcarnitines. Address correspondence to: Abhimanyu Garg, 5,323 Harry Hines Boulevard, Dallas, Texas 75,390, USA. Phone: 214.648.2895; Email: [\u2026]<\/p>\n","protected":false},"author":662,"featured_media":0,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[11,1512],"tags":[],"class_list":["post-229164","post","type-post","status-publish","format-standard","hentry","category-biotech-medical","category-mobile-phones"],"_links":{"self":[{"href":"https:\/\/lifeboat.com\/blog\/wp-json\/wp\/v2\/posts\/229164","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/lifeboat.com\/blog\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/lifeboat.com\/blog\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/lifeboat.com\/blog\/wp-json\/wp\/v2\/users\/662"}],"replies":[{"embeddable":true,"href":"https:\/\/lifeboat.com\/blog\/wp-json\/wp\/v2\/comments?post=229164"}],"version-history":[{"count":0,"href":"https:\/\/lifeboat.com\/blog\/wp-json\/wp\/v2\/posts\/229164\/revisions"}],"wp:attachment":[{"href":"https:\/\/lifeboat.com\/blog\/wp-json\/wp\/v2\/media?parent=229164"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/lifeboat.com\/blog\/wp-json\/wp\/v2\/categories?post=229164"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/lifeboat.com\/blog\/wp-json\/wp\/v2\/tags?post=229164"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}