Ethylmalonic encephalopathy is a rare, autosomal recessive genetic disorder defined as an inborn error of metabolism. A genetic disorder is a condition caused by abnormalities in Genes or Chromosomes While some diseases such as Cancer, are due to genetic abnormalities acquired Inborn errors of metabolism comprise a large class of genetic Diseases involving disorders of Metabolism. It affects several body systems, including the gastrointestinal system, circulatory system, and particularly the nervous system. This is an article about the rock music band "Circulatory System" The nervous system is a Network of specialized cells that communicate information about an animal's surroundings and itself ^[1]

Symptoms

Neurologic signs and symptoms include progressively delayed development, weak muscle tone (hypotonia), seizures, and abnormal movements. Hypotonia is a condition of abnormally low Muscle tone (the amount of tension or resistance to movement in a muscle often involving reduced muscle strength The body's network of blood vessels is also affected. Children with this disorder may experience rashes of tiny red spots (petechiae) caused by bleeding under the skin and blue discoloration in the hands and feet due to reduced oxygen in the blood (acrocyanosis). A petechia (pɨˈtiːkiə plural petechiae (pɨˈtiːkɪiː is a small (1-2mm red or purple spot on the body caused by a minor Hemorrhage (broken Capillary Acrocyanosis refer to a persistent blue or cyanotic discoloration of the digits most commonly occurring in the hands although also occurring in the face and feet as well Chronic diarrhea is another common feature of ethylmalonic encephalopathy.

The signs and symptoms of ethylmalonic encephalopathy are apparent at birth or begin in the first few months of life. Problems with the nervous system typically worsen over time, and most affected individuals survive only into early childhood. A few children with a milder, chronic form of this disorder have been reported.

Pathophysiology

Ethylmalonic encephalopathy has an autosomal recessive pattern of inheritance.

Mutations in the ETHE1 gene cause ethylmalonic encephalopathy. The ETHE1 gene provides instructions for making an enzyme that plays an important role in energy production. It is active in mitochondria, which are the energy-producing centers within cells. In Cell biology, a mitochondrion (plural mitochondria) is a membrane-enclosed Organelle found in most eukaryotic cells. Little is known about the enzyme's exact function, however.

Mutations in the ETHE1 gene lead to the production of a nonfunctional version of the enzyme or prevent any enzyme from being made. A lack of the ETHE1 enzyme impairs the body's ability to make energy in mitochondria. Additionally, a loss of this enzyme allows potentially toxic compounds, including ethylmalonic acid and lactic acid, to build up in the body. Excess amounts of these compounds can be detected in urine. It remains unclear how a loss of the ETHE1 enzyme leads to progressive brain dysfunction and the other features of ethylmalonic encephalopathy.

This condition is an autosomal recessive disorder, which means the defective gene is located on an autosome, and both parents must carry one copy of the defective gene in order to have a child born with the disorder. An autosome is a non-sex Chromosome. It is an ordinarily paired type of chromosome that is the same in both Sexes of a species. The parents of a child with an autosomal recessive disorder are usually not affected by the disorder.

External links

• Overview of condition at NLM Genetics Home Reference

References