organic acidemias, also known as organic acidurias, are a group of disorders characterized by increased excretion of organic acids in urine. they result primarily from deficiencies of specific enzymes in the breakdown pathways of amino acids or from enzyme deficiencies in beta oxidation of fatty acids or carbohydrate metabolism. organic acids also are found in the urine of some patients with mi...

organic acid occur as physiologic intermediates in variety of intracellular metabolic pathways, such as catabolism of aminoacid, mitochondrial β oxidation of fatty acids, tricarboxilic acid cycle, and cholestrol and fatty acid biosynthesis. the classical organic aciduria represent the pursuit of abnormalities of aminoacid degradation beyond deamination their diagnostic hallmark is an accumulati...

inborn errors of organic acid metabolism are relatively recently recognized diseases with a wide spectrum of clinical signs and symptoms: ranging from asymptomatic, normal appearing children to death during first few days of life.in my presentation i will try to explain some of the most common clinical presentation of these disorder with stress on neurologic findings. organic acidemia usually h...

organic acidemias are the group of metabolic disorders which define by high anion gap metabolic acidosis, hypo or hyperglycemia & hyperammonemia.because of the severity of disease in children and its fatality in severe form of disease and also need for life long treatment, prenatal diagnosis is an important diagnostic tool.three approaches to prenatal diagnosis may be possible, including measur...

organic academia are diverse group of disorders characterized by abnormal degredation of specific amino acid in the specific catabolism due to an enzymeactivity defect which mainly due to enzyme deficiency. the majority of the classic organic acid disorders are caused by abnormal catabolism of branched-chain amino acids like lysine. maple syrup urine disease (msud), propionic acidemia, methylma...

clinical differential diagnosisthe organic acidemias are important in the differential diagnosis of metabolic and neurologic derangement in the neonate and of new-onset neurologic signs in the older child. a-organic aciduriaseveral disorders, not classified as primary disorders of organic acid metabolism, have a characteristic urinary organic acid profile that suggests the appropriate diagnosis...

Collaboration between academia and industry is a growing phenomenon within the chemistry community. These sectors have long held strong ties since academia traditionally trains the future scientists of the corporate world, but the recent drastic decrease of public funding is motivating the academic world to seek more private grants. This concept of industrial "sponsoring" is not new, and in the...