eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | classic galactosemia |
| Comorbidity | C0016952|galactosemia |
| Sentences | 5 |
| PubMedID- 21246399 | classic galactosemia due to galactose-1-phosphate uridyltransferase (galt) deficiency is associated with apparent diet-independent complications including cognitive impairment, learning problems and speech defects. |
| PubMedID- 22483615 | After ascertainment that the positive nbs indicates the possibility of galactosemia due to galt deficiency, the critical question for the physician is whether the infant has the classic or a variant form of galt deficiency, as classic galactosemia is a medical emergency. |
| PubMedID- 21290187 | Because of the galt deficiency in galactosemia, there is an accumulation of gal-1-p and galactitol, which is considered to be one of the most important factors in the pathophysiology. |
| PubMedID- 22963887 | The functionally neutral n314d variation in the galt gene is associated with duarte galactosemia and is widespread among various worldwide populations. |
| PubMedID- 21188552 | In the very first instance of its kind from india, the authors report the presence of three different galatose-1-phosphate uridyl transferase (galt) gene mutations, associated with galactosemia, in a single indian family. |
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