Hereditary galactosemia is among the most common carbohydrate metabolism disorders and can be a life-threatening illness during the newborn period. First described in a variant patient in 1935 by Mason and Turner, galactose-1-phosphate uridyltransferase
also known as aldose 1-epimerase deficiency or type IV galactosemia (OMIM # 618881). This entity, described in 2019 [3], is due to the defect of the enzyme that catalyzes the first step of the referred pathway consisting of epimerization between β- and α-D-galactose...
Such screening is, however, offered for a small selection of disorders (including glutaric aciduria type I, isovaleric acidaemia, galactosemia, and MPV17-hepatocerebral mitochondrial DNA depletion syndrome) following the comprehensive description of cohorts in literature. Currently, substantial knowledge ...
With the benefit of early diagnosis by neonatal screening and early therapy, the acute presentation of classical galactosemia can be prevented. However, despite early diagnosis and treatment, the long term outcome for these patients is still unpredictable because they may go on to develop cognitive ...
Fig. 1: Geographic distribution of iHope patients in Peru. The distribution of patients participating in the iHope program is shown across Peru. Participating individuals are shown as purple circles, with the size of the circle denoting the number of patients from a given ZIP code. More than ...
In metabolic disorders of carbohydrate metabolism, such as galactosemia, the nutrient of concern (galactose) is not essential. Therefore, the goal of effective MNT is to eliminate as much of the exogenous component as possible from the diet. There is no established requirement for galactose because...
Intriguingly, exosomes extracted from the serum of young mice are found to rejuvenate the expression of Aire in elderly mice, which could trigger efficient presentation of self-antigens in the thymus and reduce the production of autoreactive T cells [135]. Besides, combining deletion of NF-κB2...
81443 Genetic testing for severe inherited conditions (eg, cystic fibrosis, Ashkenazi Jewish-hyphenassociated disorders [eg, Bloom syndrome, Canavan disease, Fanconi anemia type C, mucolipidosis type VI, Gaucher disease, Tay-hyphenSachs disease], beta hemoglobinopathies, phenylketonuria, galactosemia),...
Pathophysiology of impaired ovarian function in galactosaemia The aim of this article is to present an extensive review on the pathogenesis and clinical management of galactose-induced premature ovarian failure... T Forges,P Monnier-Barbarino,B Leheup,... - 《Human Reproduction Update》 被引量:...
2 2.45 8.62 3 3.26 ab/c 0.64 0.58 Galactosemia HF I 3.71 3.27 2+ 1.45 1.59 *4.08 21.02 7.77 _t 1.99 0.94 3.98 _+ 1.41 7.24 2.52 0.85 The patients were reportedly well controlled and-presented no ab- normalities of liver transaminases or blood coagulation at the time of presentation. ...