Bresolin N, Comi G P, Fortunato F, Meola G, Gallanti A, Tajana A, Velicogna M, Gonano E F, Ninfali P, Pifferi S
Institute of Clinical Neurology, Dino Ferrari Center, University of Milan, Italy.
J Neurol. 1993 May;240(5):272-7. doi: 10.1007/BF00838160.
An 8-year-old boy with galactose-1-phosphate uridyl transferase (GALT) deficiency presented with hypotonia, muscle hypotrophy, hepatomegaly, bilateral cataract and mild mental retardation. Two brothers showed a GALT activity consistent with a homozygotic condition and both parents were found to be heterozygotes for this defect. Histological and ultrastructural examination of muscle biopsy specimens showed several necrotic fibres. GALT activity was undetectable in skeletal muscle and muscle tissue cultures; myotubes converted galactose to CO2 at a lower rate than controls. Galactose-1-phosphate was increased in the patient's red cells and muscle tissue. GALT deficiency, not previously described in muscle, may be of pathogenic relevance in determining the myopathic features present in GALT deficiency syndrome.
一名患有1-磷酸半乳糖尿苷转移酶（GALT）缺乏症的8岁男孩出现肌张力减退、肌肉萎缩、肝肿大、双侧白内障和轻度智力发育迟缓。两个兄弟的GALT活性与纯合子状态一致，且发现父母双方均为该缺陷的杂合子。肌肉活检标本的组织学和超微结构检查显示有几条坏死纤维。在骨骼肌和肌肉组织培养物中未检测到GALT活性；肌管将半乳糖转化为二氧化碳的速率低于对照组。患者红细胞和肌肉组织中的1-磷酸半乳糖增加。GALT缺乏症以前在肌肉中未被描述，可能在确定GALT缺乏症综合征中存在的肌病特征方面具有致病相关性。
