Galactosemia 英/ɡə'læktə'sɪmɪə/ 美/ɡə,læktə'simiə/
释 义 n. [遗] 半乳糖血（症）
例 句 The classical form of galactosemia is characterized by vomiting, diarrhea, jaundice and failure to thrive within a few days after birth. 半乳糖血症的典型症状是婴儿出生几天后出现呕吐，腹泻，黄疸和营养不能被吸收。
作者： Merel E Hermans
期刊：Orphanet J Rare Dis
The current systematic review examined the incidence of cognitive impairment in patients with CG and reviewed the impairment in specific cognitive domains. Eleven studies were identified, including three case reports and one case-series. Of the eight studies investigating multiple patients, the quality was in seven studies moderate to low. Moreover, the number of studies per cognitive domain was low. The review revealed that large differences exist amongst patients with CG. The averaged performance of the patients reported in each group study was often on a below average to low level, while a proportion of the patients performed on an impaired level. Twenty to 40 % of the patients performed on an impaired level on attention and memory, and, according to one study, on working memory. The range of vocabulary performances of the individual patients also exceeded the level of impairment, however specific percentages of the proportion of patients performing on an impaired level remained unknown. Evidence for impairments in other aspects of language functioning was mainly limited to case studies. The average level of performance did reach an impaired level for information processing speed, space perception, cognitive flexibility and cognitive inhibition, but the evidence was based on only a small number of studies. There is some indication that abstract thinking and visuoconstruction are relatively spared. Social cognition was not investigated at all. These results suggest that specific cognitive impairments indeed underlie the lower level of intellectual functioning. However, a specific cognitive profile cannot be determined due to individual differences between patients and limited number of merely small studies. A large number of studies investigating cognition in CG was excluded in this review since they only utilized developmental screening- or intelligence batteries. This represents the initial main focus on clinically assessing developmental delay and intelligence only in patients with CG.