Poenaru L, Akli S, Rocchiccioli F, Eydoux P, Zamet P
Institut Cochin de Génétique Moléculaire, INSERM U 129, Paris, France.
Clin Genet. 1992 Jun;41(6):331-4. doi: 10.1111/j.1399-0004.1992.tb03408.x.
Beta-mannosidosis is a recently described inherited disorder with predominantly neurological signs and symptoms as the major manifestations of the disorder. The heterogeneous manifestations of the disease have been presented in seven previous patients. We describe a further case of European descent with an infantile onset of the disease, with the features of speech impairment as the first symptom. Beta-mannosidase activity was completely deficient in the patient and a heterozygote level was found in the parents. In addition, mannosyl-N-acetylglucosamine was identified in the patient's urine in keeping with the diagnosis of beta-mannosidosis.
β-甘露糖苷贮积症是一种最近才被描述的遗传性疾病，主要以神经体征和症状为该疾病的主要表现。该疾病的异质性表现已在之前的7例患者中有所呈现。我们描述了另一例欧洲血统的病例，该疾病呈婴儿期发病，以言语障碍为首发症状。患者体内β-甘露糖苷酶活性完全缺乏，其父母为杂合子水平。此外，在患者尿液中检测到甘露糖基-N-乙酰葡糖胺，这与β-甘露糖苷贮积症的诊断相符。
