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Without enough of this enzyme complex, long-chain fatty acids cannot be metabolized. As a result, these fatty acids are not converted to energy, which can lead to some features of this disorder. Long-chain fatty acids may also build up and damage the liver, heart, and muscles. This abnormal buildup causes other symptoms of mitochondrial ...
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 ...
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.
Because protein deficiency is usually reversible, it’s worth familiarizing yourself with the symptoms so that you can remedy the situation as soon as possible. The signs of protein deficiency ...
[2] [7] The symptoms of short-chain acyl-CoA dehydrogenase deficiency may be triggered during illnesses such as viral infections. In some cases, signs and symptoms may not appear until adulthood, when some individuals may develop muscle weakness, while other individuals mild symptoms may never be diagnosed. [2] [5]
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.
A diagnosis of essential fructosuria is typically made after a positive routine test for reducing sugars in the urine. An additional test with glucose oxidase must also be carried out (with a negative result indicating essential fructosuria) as a positive test for reducing sugars is most often a result of glucosuria secondary to diabetes mellitus.
The urine of infants with BTD may contain lactic acid and ammonia. Other symptoms that infants may exhibit include ataxia, breathing issues, lethargy, hepatomegaly, splenomegaly, and speech problems. The condition may eventually result in a coma and death. [1] Biotinidase deficiency can also appear later in life.