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What is Ethylmalonic encephalopathy and explain in detail?
Ethylmalonic encephalopathy (EE) is a rare autosomal recessive inborn error of metabolism.  Patients affected with EE are typically identified shortly after birth, with symptoms including diarrhea, petechiae and seizures.  The genetic defect in EE is thought to involve an impairment in the degradation of sulfide intermediates in the body.  Hydrogen sulfide then builds up to toxic levels.  EE was initially described in 1994.  Most cases of EE have been described in individuals of Mediterranean or Arabic origin.

Signs and symptoms
Neurologic signs and symptoms include progressively delayed development, weak muscle tone (hypotonia), seizures, and abnormal movements. The bodys 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). Chronic diarrhea is another common feature of ethylmalonic encephalopathy.  EE is often identified by urine organic acid analysis, the excretion of ethylmalonic acid, methylsuccinic acid, isobutyrylglycine and isovalerylglucine.  Patients will also often have elevated thiosulphate concentration in their urine.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