Ziegler R, Schmidt H, Sewell A C, Weglage J, von Lengerke J H, Ullrich K
Kinderklinik, Westfälischen Wilhelms-Universität Münster.
Monatsschr Kinderheilkd. 1989 Aug;137(8):454-7.
Aspartylglucosaminuria was diagnosed for the first time in two german patients. First sign of the disease was retardation of speech at the age of two years. Later on, motor and mental retardation as well as a coarse face developed. Radiological examination revealed progressive changes of the thoracic and lumbar spine with wedge-shaped vertebral bodies as well as stubby metacarpalia and cystic changes of carpalia. Coarse face developed earlier than in the finnish patients described earlier. Thin cortex of long bones and cortical thickness of metacarpalia was not found in our patients.
两名德国患者首次被诊断出患有天冬氨酰葡糖胺尿症。该病的首个症状是两岁时出现言语发育迟缓。后来，出现运动和智力发育迟缓以及面容粗糙。放射学检查显示胸腰椎有进行性改变，椎体呈楔形，掌骨粗短，腕骨有囊性改变。面容粗糙比之前描述的芬兰患者出现得更早。我们的患者未发现长骨皮质变薄和掌骨皮质厚度异常。
