Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency is a rare inb orn disorder of mitochondrial fatty acid β-oxidation. Clinical manifestations include acute symptoms such as hypoketotic hypoglycemia with h...Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency is a rare inb orn disorder of mitochondrial fatty acid β-oxidation. Clinical manifestations include acute symptoms such as hypoketotic hypoglycemia with hepatopathy and enc ephalopathy and chronic symptoms such as myopathy, cardiomyopathy, neuropathy, a nd retinopathy. More than 80%of patients with acute manifestations of LCHAD def iciency will die during the first 2 years of life. Fatty acid oxidation defects can now be diagnosed during the initial days of life in the presymptomatic state by newborn screening with tandem mass spectrometry. Screening of 630,000 newbor ns detected 9 patients with LCHAD defect (a high incidence of 1:30,000 in the no rth-western part of Germany). We report on the clinical course of two patients with LCHAD defect who were diagnosed by newborn screening during their first 2 y ears of life. The development of characteristic symptoms in both patients could not be prevented. However, with early and specific therapy both patients showed normal development at the age of 24 months. The hope is that early identificatio n of such patients through newborn screening may improve the prognosis of patien ts with this disorder.展开更多
文摘Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency is a rare inb orn disorder of mitochondrial fatty acid β-oxidation. Clinical manifestations include acute symptoms such as hypoketotic hypoglycemia with hepatopathy and enc ephalopathy and chronic symptoms such as myopathy, cardiomyopathy, neuropathy, a nd retinopathy. More than 80%of patients with acute manifestations of LCHAD def iciency will die during the first 2 years of life. Fatty acid oxidation defects can now be diagnosed during the initial days of life in the presymptomatic state by newborn screening with tandem mass spectrometry. Screening of 630,000 newbor ns detected 9 patients with LCHAD defect (a high incidence of 1:30,000 in the no rth-western part of Germany). We report on the clinical course of two patients with LCHAD defect who were diagnosed by newborn screening during their first 2 y ears of life. The development of characteristic symptoms in both patients could not be prevented. However, with early and specific therapy both patients showed normal development at the age of 24 months. The hope is that early identificatio n of such patients through newborn screening may improve the prognosis of patien ts with this disorder.
