Maple Syrup Urine Disease News and Research

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30-year study of MSUD highlights critical need for more effective disease-modifying therapies

A new study analyzes 30 years of patient data and details the clinical course of 184 individuals with genetically diverse forms of Maple Syrup Urine Disease (MSUD), which is among the most volatile and dangerous inherited metabolic disorders.

24 Jan 2020

Yeast model may pave way for development of novel therapies for metabolic disorders

There are hundreds of metabolic disorders -- including phenylketonuria, tyrosinemia, maple syrup urine disease and homocystinuria.

17 Jan 2019

Diabetes drug metformin could help reduce toxic acid levels linked to MSUD

Maple Syrup Urine Disease (MSUD) is a rare inherited metabolic disorder involving the dysfunction of an enzyme which breaks down three essential amino acids: leucine, isoleucine and valine.

6 Jul 2016

Odor-producing chemicals in earwax differ according to ethnic origin

Scientists from the Monell Center have used analytical organic chemistry to identify the presence of odor-producing chemical compounds in human earwax. Further, they found that the amounts of these compounds differ between individuals of East Asian origin and Caucasians.

13 Feb 2014

Study shows fat transplantation may treat inherited metabolic diseases

Transplanting fat may treat such inherited metabolic diseases as maple syrup urine disease (MSUD) by helping the body process the essential amino acids that these patients cannot, according to Penn State College of Medicine researchers.

12 Sep 2013

Scientists develop mutant zebrafish to study Maple Syrup Urine Disease

In medical research, finding a reliable and cost-effective animal model can greatly enhance success in identifying disease mechanisms and genetic pathways, potentially cutting years off drug testing regimes and development of new treatment strategies.

14 Feb 2012

NYU professor conducts genetic screening at academic campuses in Boston

Dr. Harry Ostrer, professor of pediatrics, pathology and medicine at NYU Langone Medical Center will be conducting genetic screening at four college campuses in Boston on February 1st and 2nd. Individuals interested in being screened should sign- up online at www.med.nyu.edu/genetics.

28 Jan 2010

Novel approach for treating mitochondrial disorders wins Kaye prize

A novel concept for the treatment of mitochondrial disorders using directed enzyme replacement therapy (DERT) has won for a Hebrew University of Jerusalem doctoral candidate one of this year's Kaye Innovation Awards. The awards were presented at this year's 71st meeting of the Hebrew University Board of Governors.

30 Jun 2008

Novel newborn screening kits developed by NovaUCD-based Enzolve Technologies

Enzolve Technologies, a UCD spin-out company based at NovaUCD the Innovation and Technology Transfer Centre at University College Dublin, has received substantial investment from Enterprise Ireland under the National Development Plan (2007-2013) and private investors.

29 Apr 2008

FDA clears blood test to screen newborn infants for a variety of inherited diseases

The Food and Drug Administration has cleared for marketing a new laboratory blood test that will help doctors screen newborn infants for a variety of inherited diseases.

From PerkinElmer 26 Aug 2004