Kingma Sandra D K, Ceulemans Berten, Kenis Sandra, Jonckheere An I
Centre for Metabolic Diseases University Hospital Antwerp, University of Antwerp Edegem, Antwerp Belgium.
Department of Pediatric Neurology Antwerp University Hospital, University of Antwerp Edegem, Antwerp Belgium.
JIMD Rep. 2021 Mar 18;59(1):90-103. doi: 10.1002/jmd2.12204. eCollection 2021 May.
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.
单唾液酸四己糖神经节苷脂（GM1）神经节苷脂沉积症和莫尔基奥B型（MorB）是两种由相同酶缺乏，即β-半乳糖苷酶（βgal）引起的溶酶体贮积症（LSDs）。GM1神经节苷脂沉积症与GM1神经节苷脂蓄积有关，是一种神经退行性疾病，其特征为精神运动发育迟缓、内脏肿大、樱桃红斑以及面部和骨骼异常。MorB的特征是由于硫酸角质素（KS）蓄积导致明显且严重的骨骼畸形。关于GM1神经节苷脂沉积症和MorB之间中间表型的报道仅有几例。两名具有这种罕见中间表型的新患者的临床表现促使我们回顾文献，研究GM1神经节苷脂沉积症和MorB之间的异同，并推测可能导致临床表现差异的潜在机制。总之，我们假设GM1神经节苷脂沉积症和MorB是同一疾病的一个表型谱的一部分，并且溶酶体贮积症的分类可能需要修订。
