Ng W G, Xu Y K, Wong L J, Kaufman F R, Buist N R M, Donnell G N
Childrens Hospital Los Angeles, Department of Pediatrics, University of Southern California Keck School of Medicine, Los Angeles, California 90027, USA.
J Inherit Metab Dis. 2003;26(1):75-9. doi: 10.1023/a:1024039916476.
We report two unrelated cases of adult galactosaemia females with normal ovarian function and Q188R/R333G mutations. Clinical history has been followed for 40 years. Biochemical finding in one patient are consistent with the presence of small amounts of galactose-1-phosphate uridyltransferase (GALT) activity, which differs from classical galactosaemia.
我们报告了两例卵巢功能正常且存在Q188R/R333G突变的成年女性半乳糖血症患者，她们并无亲缘关系。临床病史随访长达40年。其中一名患者的生化检查结果与少量1-磷酸半乳糖尿苷转移酶（GALT）活性的存在相符，这与经典半乳糖血症不同。
