Genetic Disorder - 3-hydroxy-3-methylglutaryl-CoA lyase deficiency

3-hydroxy-3-methylglutaryl-CoA lyase deficiency also known as HMG CoA lyase deficiency is an inherited disorder in which the body cannot process a protein called leucine or make ketones. Ketones are used for energy during periods of fasting.
The signs and symptoms of condition usually appear within the first year of life and include episodes of vomiting, diarrhea, dehydration, extreme tiredness (lethargy), and weak muscle tone (hypotonia).
During an episode, blood sugar levels can become dangerously low (hypoglycemia), and a buildup of harmful compounds can cause the blood to become too acidic (metabolic acidosis).
If untreated, the disorder can lead to breathing problems, convulsions, coma, and death. Episodes are often triggered by an infection, fasting, strenuous exercise, or other types of stress.
Mutations in the HMGCL gene cause HMG-CoA lyase deficiency, and this condition is inherited in an autosomal recessive pattern. Treatment usually involves a team of specialists including a metabolics and/or genetics specialist and a dietician and may include avoidance of fasting, a low leucine diet, and supplementation with L-carnitine.
Diagnosis of 3-hydroxyacyl-CoA dehydrogenase deficiency may be suspected by symptoms but is confirmed by genetic testing. Genetic testing for finding the mutation in this gene is of high importance to know the exact cause and prognosis of the disease. Genetic testing also helps doctors to determine the most suitable treatment plan with least adverse effects.
Genetix.us offers genetic testing from world’s most advanced laboratories for accurate diagnosis of 3-hydroxy-3-methylglutaryl-CoA lyase deficiency to help doctors with better insight into this disease.
Apart from genetic testing, our services include medical consultations from some of the top experts in USA based upon the test reports.
These tests are available through our partnering clinics in USA, UAE and India. For more details, please visit our website or send a whatsapp message to + 1- (913) 592-9696


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