ETHE1 Human
Description
ETHE1 is fused to a 25 amino acid His-tag at N-terminus & purified by proprietary chromatographic techniques.
Product Specs
Product Science Overview
Ethylmalonic Encephalopathy (EE) is a rare, inherited metabolic disorder that primarily affects the nervous system, blood vessels, and other body systems. It is caused by mutations in the ETHE1 gene, which encodes the enzyme ethylmalonic encephalopathy 1 (ETHE1). This enzyme plays a crucial role in the detoxification of hydrogen sulfide (H₂S) in the mitochondrial matrix .
The ETHE1 gene is located on chromosome 19q13 and encodes a sulphur dioxygenase enzyme. Mutations in this gene disrupt the normal function of the enzyme, leading to the accumulation of toxic metabolites, including ethylmalonic acid (EMA) and C4 acylcarnitine . These toxic substances cause damage to various tissues, particularly the brain, leading to the clinical manifestations of EE.
Ethylmalonic Encephalopathy presents with a range of symptoms that typically appear at birth or in early infancy. These symptoms include:
- Neurological Symptoms: Developmental delay, hypotonia (weak muscle tone), seizures, and abnormal movements .
- Vascular Symptoms: Petechiae (tiny red spots under the skin) and acrocyanosis (blue discoloration of the hands and feet due to reduced blood flow) .
- Gastrointestinal Symptoms: Chronic bloody diarrhea and difficulty swallowing, leading to poor growth .
Diagnosis of EE is based on clinical examination, laboratory testing of blood and urine, and imaging studies of the brain. Genetic testing can confirm the diagnosis by identifying mutations in the ETHE1 gene . Measurement of EMA and C4 acylcarnitine levels during metabolic attacks is critical for diagnosing EE .
There is currently no cure for EE, but treatment focuses on managing symptoms and reducing the accumulation of toxic metabolites. Long-term treatment strategies include:
- Medications: Metronidazole and N-acetylcysteine (NAC) to reduce sulfide accumulation .
- Dietary Modifications: Specific dietary changes to manage symptoms.
- Liver Transplantation: In some cases, liver transplantation may be considered.
- Continuous Renal Replacement Therapy (CRRT): To help detoxify the body .
