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

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.

Complex glycerol kinase deficiency: two case report and literature review / 临床儿科杂志

Objective To explore the clinical and genetic characteristics of complex glycerol kinase deficiency (GKD). Methods The clinical data of 2 cases of complex GKD were analyzed and the related literatures were reviewed. Results Both cases were male onset in neonatal period, and had hypocorticalism (hyponatremia, hyperkalemia, dehydration), hypercreatine kinasemia, and pseudotriglyceridemia. Gene detection suggested that there was gene deletion in chromosome Xp21 region. In the follow-up, one case had good control of the disease and one died of infection. Conclusions Complex GKD is an X-linked recessive hereditary disease. It is rare and complicated, and is easily misdiagnosed. Early diagnosis and treatment are beneficial to improve the prognosis.

Two Cases of Xp21 Contiguous Gene Deletion Syndrome

On chromosome Xp21 region, several genes such as glycerol kinase (GK) gene, adrenal hypoplasia congenita gene and Duchenne muscular dystrophy gene are located contiguously. Xp21 contiguous gene deletion syndrome involves the glycerol kinase gene deletion together with the adrenal hypoplasia congenita and/or Duchenne muscular dystrophy gene. The clinical features of a patient with a Xp21 contiguous gene deletion syndrome are sum of each disease,psychomotor retardation and lethargy for glycerol kinase deficiency, hyperpigmentation and salt wasting dehydration for congenital adrenal hypoplasia and muscular weakness and hypotonia for Duchenne muscular dystrophy. We experienced and reviewed two cases of Xp21 contiguous gene deletion syndrome with literatures.

A Case of Xp21 Contiguous Gene Deletion Syndrome with Hyperglycerolemia, Congenital Adrenal Hypoplasia and Duchenne Muscular Dystrophy

On Xp21 region several genes such as adrenal hypoplasia congenita(AHC) gene, glycerol kinase (GK) gene and Duchenne muscular dystrophy(DMD) gene are located contiguously. If there is a long deletion in that region, various combination of genetic defect can be occurred from one kind of genetic defect to all three kinds of genetic defect simultaneously. In case of more than two genetic defects simultaneously, we call it contiguous gene deletion syndrome. The major clinical manifestations of the Xp21 contiguous gene deletion syndrome are sum of each diseases, electrolyte imbalance and hyperpigmentation for adrenal hypoplasia congenita, psychomotor retardation, letharginess and convulsion for glycerol kinase deficiency and muscle weakness and hypotonia for Duchenne muscular dystrophy. Goals of the treatment are control of each disorders, glucocorticoid and mineralocorticoid for adrenal hypoplasia congenita, low fat diet and prevention of fasting and hypercatabolic status for glycerol kinase deficiency and physiotherapy for Duchenne muscular dystrophy. In case of hyponatremia and hyperkalemia combined with hyperpigmentation, adrenal hypoplasia congenita could be suspected. In glycerol kinase deficiency, markedly elevated glycerol excretion can be detected on urine organic acid analysis by gaschromatography with mass spectrometry. On Duchenne muscular dystrophy, creatinine kinase is markedly elevated on chemistry. We report here first Korean case of Xp21 contiguous gene deletion syndrome of adrenal hypoplasia congenita, glycerol kinase deficiency and Duchenne muscular dystrophy.