Malonic aciduria

基金名称
Malonic aciduria
资助机构
National Organization for Rare Disorders
地区
United States
研究领域
Medicine, Neurology (clinical)
Biochemistry, Genetics and Molecular Biology, Molecular Medicine
基金规模
Up to 50,000 USD
联系方式
research@rarediseases.org
申请资格
Mid-Career and Experienced Researchers
说明
NORD, with funding from The Hope Fund, is accepting applications for a total of $50,000, for scientific and/or clinical research studies related to malonyl-CoA decarboxylase deficiency, a rare metabolic condition that prevents the body from converting certain fats to energy. The signs and symptoms of this disorder are variable, but may include delayed development in childhood, hypotonia, seizures, diarrhea, vomiting, metabolic acidosis, hypoglycemia, ketosis, abnormal urinary compounds, lactic academia and hypertrophic cardiomyopathy. This condition is caused by mutations in the malonyl-CoA decarboxylase gene (MLYCD) gene, and is inherited as an autosomal recessive trait. The MCD enzyme is involved in the degradation of malonyl-CoA and it appears that inhibition of fatty acid synthesis as a result of malonyl-CoA accumulation is responsible for at least some of the clinical manifestations of the disorder. This condition is known as malonic aciduria, malonic acidemia, malonyl-coenzyme A decarboxylase deficiency, and MCD deficiency.

基金资源

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