Golterman L K, Maaswinkel-Mooy P D
Afd. Kindergeneeskunde, Academisch Ziekenhuis Leiden.
Tijdschr Kindergeneeskd. 1989 Apr;57(2):60-2.
Autosomal recessive hereditary methemoglobinemia associated with mental retardation is a rare syndrome caused by a deficiency of the enzyme NADH cytochrome b5 reductase. A patient suffering from this disorder is described. The etiology of the syndrome and the (im)possibilities of treatment and prenatal diagnosis are discussed.
与智力发育迟缓相关的常染色体隐性遗传性高铁血红蛋白血症是一种由NADH细胞色素b5还原酶缺乏引起的罕见综合征。本文描述了一名患有该疾病的患者。讨论了该综合征的病因以及治疗和产前诊断的(不)可能性。