Advances in diagnosis and treatment of complex glycerol kinase deficiency / 国际儿科学杂志

ABSTRACT

Glycerol kinase deficiency is an X chromosome recessive genetic metabolic defects,of which 90％ patients are male.Glycerol kinase deficiency is often sporadic,but sometimes inheritary.It is rare and can be divided into simple type and complex type.Complex glycerol kinase deficiency,also known as Xp21 associated gene deletion syndrome,has clinical manifestation that appears to be a syndrome of several isolated gene defects,including congenital adrenal dysplasia,hypertriglyceridemia,Duchenne muscular dystrophy,and is often misdiagnosed.Complex glycerol kinase deficiency is rare,often has early onset.If not treated timely,it can cause death even in the neonate.There is no effective cure for this disease,and the only choice is symptomatic treatment and limitting the intake of fat.For instance,when glycerol kinase deficiency is accompanied by adrenal cortical dysfunction,it usually requires the early alternative treatment of adrenal cortex hormones to prevent the occurrence of adrenal crisis.All clinicians should improve the understanding of the disease.This review is focused on the introduction of pathogenic characteristics,clinical features,genetic characterstics,genetic counseling,treatment and prognosis of complex glycerol kinase deficiency.