Quantcast
Last updated on April 19, 2014 at 5:20 EDT

Latest Inborn errors of metabolism Stories

2012-07-05 02:23:53

BLAINVILLE, QC, July 5, 2012 /PRNewswire/ - Medunik Canada, is an orphan drug company dedicated to helping Canadians with rare diseases access therapies currently unavailable in Canada. Medunik Canada is proud to announce that it has signed an exclusive distribution agreement with Orphan Europe Recordati Group. Under this agreement, Medunik Canada receives the exclusive Canadian rights to market and distribute four important therapies in the following medical conditions: (1) acute...

2012-06-05 23:03:15

Revolutionary dietary supplement from Neogenis® Labs supported struggling teen´s circulation and helped his body normalize blood pressure. Austin, TX (PRWEB) June 05, 2012 In the spring of 2010, Baylor College of Medicine's (BCM) Dr. Brendan Lee received a desperate email from the mother of one of his patients. The teen — who had been Lee's patient for most of his life — was in hypertensive crisis and none of the usual treatments could bring his blood pressure down to...

2012-05-09 19:39:51

The deletion of part of a gene that plays a role in the synthesis of carnitine — an amino acid derivative that helps the body use fat for energy — may play a role in milder forms of autism, said a group of researchers led by those at Baylor College of Medicine and Texas Children's Hospital. "This is a novel inborn error of metabolism," said Dr. Arthur Beaudet, chair of molecular and human genetics at BCM and a physician at Texas Children's Hospital, and the senior author of the...

2012-05-07 20:22:05

The deletion of part of a gene that plays a role in the synthesis of carnitine — an amino acid derivative that helps the body use fat for energy — may play a role in milder forms of autism, said a group of researchers led by those at Baylor College of Medicine (http://www.bcm.edu) and Texas Children's Hospital (http://www.texaschildrens.org). "This is a novel inborn error of metabolism," said Dr. Arthur Beaudet (http://www.bcm.edu/genetics/index.cfm?pmid=10579), chair of...

2012-04-26 22:29:05

A team of researchers has discovered a treatment for a common metabolic disorder. The study, published by Cell Press on April 26th in the American Journal of Human Genetics, the official journal of the American Society of Human Genetics, reports that supplementation of nitric oxide (NO) in mice and man afflicted with argininosuccinic aciduria (ASA), a urea cycle disorder (UCD), results in long-term heart and neuropsychological improvements. UCDs are genetic metabolic conditions resulting...

2012-04-26 22:26:38

In the spring of 2010, Baylor College of Medicine's Dr. Brendan Lee received a desperate email from the mother of one of his patients. The teen — who had been Lee's patient for most of his life — was in hypertensive crisis and none of the usual treatments could bring his blood pressure down to normal. His heart was enlarged and not pumping well — a problem called cardiomyopathy that was the result of more than a decade of difficult-to-control high blood pressure....

2012-03-28 02:25:38

NOVATO, Calif., March 28, 2012 /PRNewswire/ -- Ultragenyx Pharmaceutical Inc., a biotechnology company focused on developing treatments for rare and ultra-rare genetic disorders, today announced that the European Medicines Agency (EMA) has granted orphan drug designations for sialic acid for the treatment of hereditary inclusion body myopathy (HIBM) and recombinant human beta-glucuronidase for the treatment of mucopolysaccharidosis type 7 (MPS 7). Orphan designation in the European Union...

2012-03-01 11:18:00

Researchers will use computer modeling and patient surveys to study health and economic outcomes for screening of Krabbe disease, Pompe disease, and phenylketonuria ANN ARBOR, Mich., March 1, 2012 /PRNewswire-USNewswire/ - University of Michigan researchers will use a $2.5 million grant from the Agency for Healthcare Research and Quality to study long-term health outcomes and cost-effectiveness of newborn screening. This study, led by Dr. Lisa A. Prosser, Ph.D., M.S., could...

2012-02-28 05:00:00

NOVATO, Calif., Feb. 28, 2012 /PRNewswire/ -- Ultragenyx Pharmaceutical Inc., a biotechnology company focused on developing treatments for rare and ultra-rare genetic disorders, today announced that the FDA Office of Orphan Products Development has granted orphan drug designation for UX003 for the treatment of MPS 7. MPS 7 is an extremely rare autosomal recessive lysosomal storage disorder characterized by a deficiency of the lysosomal enzyme Beta-glucuronidase, required for the degradation...

2012-02-27 08:35:00

HEIDELBERG, Germany, Feb. 27, 2012 /PRNewswire/ -- For parents of babies born with urea cycle disorders (UCD), the joy of giving birth to a perfect baby can quickly turn to devastation as the baby's health rapidly declines, going from symptoms such as being tired and irritable, to not eating, to experiencing seizures and coma. UCDs are congenital and often life-threatening disorders of ammonia metabolism in the liver that cause neurotoxic ammonia to accumulate in the body, potentially...