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Medium-chain acyl-CoA dehydrogenase deficiency (MCAD deficiency or MCADD) is a disorder of fatty acid oxidation that impairs the body's ability to break down medium-chain fatty acids into acetyl-CoA. The disorder is characterized by hypoglycemia and sudden death without timely intervention, most often brought on by periods of fasting or vomiting.
Physical inactivity of children has also shown to be a serious cause, and children who fail to engage in regular physical activity are at greater risk of obesity. Researchers studied the physical activity of 133 children over a three-week period using an accelerometer to measure each child's level of physical activity. They discovered the obese ...
In addition to the fetal complications, they can also cause complications for the mother during pregnancy. [4] Examples include: Mitochondrial trifunctional protein deficiency (MTPD) [3] MCADD, LCHADD, and VLCADD [5] Schematic demonstrating mitochondrial fatty acid beta-oxidation and effects of LCHAD deficiency
Childhood obesity is defined as a body mass index (BMI) at or above the 96th percentile for children of the same age and sex. It can cause a variety of health problems, including high blood pressure, high cholesterol, heart disease, diabetes, breathing problems, sleeping problems, and joint problems later in life. [1]
In most of the disorders, problems arise due to accumulation of substances which are toxic or interfere with normal function, or due to the effects of reduced ability to synthesize essential compounds. Inborn errors of metabolism are often referred to as congenital metabolic diseases or inherited metabolic disorders. [2]
Pathophysiology of obesity is the study of disordered physiological processes that cause, result from, or are otherwise associated with obesity. A number of possible pathophysiological mechanisms have been identified which may contribute in the development and maintenance of obesity.
It is common for babies and children with the early and childhood types of VLCAD to have episodes of illness known as metabolic crises. Some of the first symptoms of a metabolic crisis are: extreme sleepiness, behavior changes, irritable mood, poor appetite.
Chromosome 12. SCADD is caused genetically by mutations in the ACADS gene, located on chromosome 12q22-qter. [8] Mutations in the ACADS gene lead to inadequate levels of short-chain acyl-CoA dehydrogenase, which is important for breaking down short-chain fatty acids.
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