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Abstract：
Monosialotetrahexosylganglioside (GMI) gangliosidosis and Morquio type B (MorB) are two lysosomal storage disorders (LSDs) caused by the same enzyme deficiency, β-galactosidase (βgal). GMI gangliosidosis, associated with GMI ganglioside accumulation, is a neurodegenerative condition characterized by psychomotor regression, visceromegaly, cherry red spot, and facial and skeletal abnormalities. MorB is characterized by prominent and severe skeletal deformities due to keratan sulfate (KS) accumulation. There are only a few reports on intermediate phenotypes between GMI gangliosidosis and MorB. The presentation of two new patients with this rare intermediate phenotype motivated us to review the literature, to study differences and similarities between GMI gangliosidosis and MorB, and to speculate about the possible mechanisms that may contribute to the differences in clinical presentation. In conclusion, we hypothesize that GMI gangliosidosis and MorB are part of one phenotypic spectrum of the same disease and that the classification of LSDs might need to be revised.
摘要：
单唾液酸四己糖神经节苷脂（GMI）神经节苷脂和MorquioB型（MorB）是由相同的酶缺乏引起的两种溶酶体贮积症（LSD），β-半乳糖苷酶(βgal)。GMI神经节苷脂沉着症,与GMI神经节苷脂积累有关，是一种以精神运动性回归为特征的神经退行性疾病，内脏肿大,樱桃红点,面部和骨骼异常。MorB的特征是由于硫酸角质素（KS）积累而导致的明显和严重的骨骼畸形。关于GMI神经节苷脂和MorB之间的中间表型只有少数报道。两名具有这种罕见中间表型的新患者的出现促使我们回顾文献，为了研究GMI神经节苷脂和MorB之间的异同，并推测可能导致临床表现差异的可能机制。总之,我们假设GMI神经节苷脂和MorB是同一疾病的一个表型谱的一部分,LSD的分类可能需要修订.
