|English to Chinese: 3-hydroxy-3-methylglutaryl-CoA synthase 2 deficiency|
|Source text - English|
3-hydroxy-3-methylglutaryl-CoA synthase 2 deficiency (HMGCS deficiency) is an autosomal recessive condition characterized by severe hypoketotic hypoglycemia in response to fasting. Other clinical characteristics include hepatomegaly and encephalopathy. Individuals with HMGCS deficiency are typically asymptomatic except during periods of prolonged fasting and during intercurrent infection. Individuals with HMGCS deficiency are unable to metabolize lipids for energy in the brain, heart, kidney and other organs during times of carbohydrate deprivation. HMGCS deficiency is caused by mutations in the gene HMGCS2. HMGCS deficiency is a rare condition: it has an estimated prevalence of less than 1 in 100,000 live births.
|Translation - Chinese|