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Mutations in the HADHA gene lead to inadequate levels of an enzyme called long-chain 3-hydroxyacyl-coenzyme A dehydrogenase, which is part of a protein complex known as mitochondrial trifunctional protein. Long-chain fatty acids from food and body fat cannot be metabolized and processed without sufficient levels of this enzyme.
The symptoms of CmRD are similar to the physical symptoms of malnutrition, as the disease arises due to the poor absorption of lipids and fat-soluble nutrients such as vitamin E. For this reason, the disease is likely to be underdiagnosed by physicians. Fat-soluble nutrients are essential for growth, development, and normal bodily function.
These fatty acids are stored in the body's fat tissues and are a major source of energy for the heart and muscles. During periods of fasting, fatty acids are also an important energy source for the liver and other tissues. [10] [11] [12] Mutations in the HADHA or HADHB genes that cause mitochondrial trifunctional protein deficiency disrupt all ...
The term fatty acid oxidation disorder (FAOD) is sometimes used, especially when there is an emphasis on the oxidation of the fatty acid. [3] 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 ...
What is protein deficiency? “Protein is an essential macronutrient that the body needs and utilizes in large quantities,” Kristen Smith, registered dietitian and spokesperson for the Academy ...
As a result, these fatty acids are not converted into energy, which can lead to characteristic signs and symptoms of this disorder, such as lethargy and hypoglycemia. Levels of very long-chain fatty acids or partially degraded fatty acids may build up in tissues and can damage the heart, liver, and muscles, causing more serious complications.
Anaemias, commonly from vitamin B 12, folic acid and iron deficiency presenting as fatigue and weakness, and the first of which can give rise to neuropsychiatric symptoms such as abnormal sensations, difficulty walking, and decreased mental abilities. Muscle cramp from decreased vitamin D, calcium absorption. Also lead to osteomalacia and ...
Protein deficiency affects 1 billion people worldwide and causes symptoms like fatigue, thinning hair, and muscle wasting.