Childhood Degenerative & Metabolic Disorders News


Jul 06, 2016
Metformin as a potential treatment for maple syrup urine disease
Publishing in Scientific Reports, researchers show that the widely-used diabetes drug metformin reduces the toxic acid levels associated with maple syrup urine disease in both skin cells derived from maple syrup urine disease patients and in mice. The discovery offers the possibility of a new treatment.
Jun 21, 2016
Highly efficient agent against Wilson disease
In the Journal of Clinical Investigation, scientists describe a small peptide that very efficiently binds excess copper from liver cells. This molecule comes from a bacterium's bag of tricks and could be suitable for treating Wilson disease. In an experimental model it has already proven superior to conventional medicines.
Apr 20, 2016
Stem-cell model for Smith-Lemli-Opitz syndrome
Studies performed by a Sanford Research scientist uncovered unique cellular defects associated with Smith-Lemli-Opitz syndrome by modeling this disease using induced pluripotent stem cells. It was discovered that 7DHC accumulation, not cholesterol deficiency, was a hallmark of these cells.
Apr 04, 2016
New syndrome named, causes a rare intellectual disability
Pediatric researchers, using high-speed DNA sequencing tools, have identified a new syndrome that causes intellectual disability, hypotonia, and seizures. Drawing on knowledge of the causative gene mutation - TBCK, the scientists' cell studies suggest that an amino acid supplement - leucine - may offer a targeted treatment for children with this condition.
Jan 13, 2016
First human in vitro model of Cockayne syndrome created
This work, published in the current online issue of the journal Human Molecular Genetics, provides an alternative to existing models for studying neural-specific aspects of Cockayne syndrome. It reveals that the CSB protein is required for normal neuronal function, and shows the feasibility of constructing a new and relevant human in vitro model with potential clinical interest.
Nov 10, 2015
Gaucher disease may protect against Parkinson disease-related color visual impairment
Study findings, published in the Journal of Parkinson's Disease, strengthen biological link between the rare genetic disease and the common neurodegenerative disorder.
Sep 15, 2015
Loss of cellular energy leads to neuronal dysfunction in neurodegenerative disease model
A new study from the Gladstone Institutes that used a model of Leigh disease shows for the first time that impairments in mitochondria can deplete cellular energy levels and cause neuronal dysfunction in a model of neurodegenerative disease.
Apr 28, 2015
Breakthrough in understanding Canavan disease
Through a series of elegant experiments, researchers at UC Davis have uncovered the biochemical underpinnings of Canavan disease. The team identified an abnormally high buildup of the second most common molecule in the brain, N-acetylaspartate (NAA), as the culprit that causes the syndrome's destructive effect.