ALLMedicine™ Encephalomyopathy Center

Jun 8th, 2022 - BACKGROUND Anorexia nervosa has been referred to as the "great pretender" of medicine and is often misdiagnosed. We present a rare genetic disorder that was misdiagnosed as anorexia nervosa. This case highlights the diagnosis of mitochondrial neur...

Apr 28th, 2022 - Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) syndrome is one of the most well-known mitochondrial diseases, with most cases attributed to m.3243A>G. MELAS syndrome patients typically present in the first two de...

Mar 29th, 2022 - Thymidine phosphorylase (TP), encoded by the TYMP gene, is a cytosolic enzyme essential for the nucleotide salvage pathway. TP catalyzes the phosphorylation of the deoxyribonucleosides, thymidine and 2'-deoxyuridine, to thymine and uracil. Biallel...

Mar 11th, 2022 - Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome is a genetically heterogeneous disorder. The most common mutation is in the mtDNA gene MT-TL1 encoding the mitochondrial tRNALeu (UUR). For understanding t...

Feb 25th, 2022 - Kallmann syndrome (KS) is an uncommon genetic disorder characterized by isolated congenital hypogonadotropic hypogonadism (CHH) and anosmia/hyposmia. KS originates from abnormal embryonic migration of olfactory axons and gonadotropin-releasing hor...

Mar 11th, 2022 - Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome is a genetically heterogeneous disorder. The most common mutation is in the mtDNA gene MT-TL1 encoding the mitochondrial tRNALeu (UUR). For understanding t...

Apr 12th, 2014 - Clinical trials using genetically modified oocytes to prevent the transmission of mitochondrial diseases in humans may be soon become a reality. But the potentially promising approach to prevent conditions such as Leigh disease and MELAS (mitochon.

Apr 12th, 2014 - GAITHERSBURG, MD. – The first human studies evaluating the use of genetically modified oocytes to prevent the transmission of mitochondrial diseases could enroll women with diseases that are the most severe, tend to present in early childhood, and.

Feb 26th, 2014 - The Cellular, Tissue, and Gene Therapies Advisory Committee of the US Food and Drug Administration (FDA) met February 25 to consider the safety of human testing of mitochondrial manipulation technologies to prevent mitochondrial disease and to boo...

Jul 11th, 2013 - MONTREAL – Intravenous ketamine resolved refractory convulsive status epilepticus in 14 of 17 cases in a small, uncontrolled prospective study. In addition to its efficacy, ketamine has a unique safety advantage over more commonly used anesthetics.