Sweet and sour: an update on classic galactosemia
نویسندگان
چکیده
منابع مشابه
Classic Galactosemia: Indian Scenario.
Classic galactosemia is an autosomal recessive disorder of galactose metabolism due to deficiency of the enzyme galactose-1phosphate uridyltransferase (GALT). Most affected babies develop severe manifestations such as failure to thrive, vomiting, diarrhea, hypoglycemia, hypotonia, jaundice (which is often unconjugated in the beginning) and cataracts within 1-2 weeks of starting milk feeding [1,...
متن کاملMotor and speech disorders in classic galactosemia.
Purpose To test the hypothesis that children with classic galactosemia and speech disorders are at risk for co-occurring strength and coordination disorders. Method This is a case-control study of 32 children (66% male) with galactosemia and neurologic speech disorders and 130 controls (50% male) ages 4-16 years. Speech was assessed using the Percentage of Consonants Correct (PCC) metric from r...
متن کاملFertility preservation in female classic galactosemia patients
Almost every female classic galactosemia patient develops primary ovarian insufficiency (POI) as a diet-independent complication of the disease. This is a major concern for patients and their parents, and physicians are often asked about possible options to preserve fertility. Unfortunately, there are no recommendations on fertility preservation in this group. The unique pathophysiology of clas...
متن کاملClassic Galactosemia Presenting with Unilateral Peters Anomaly
Objective: To report a case of classic galactosemia that presented with a rare ocular finding, Peters’ anomaly. Clinical Presentation and Intervention: A neonate, born to firstdegree healthy cousins, presented with persistent vomiting, failure to thrive, lethargy, and jaundice. Corneal opacity was noticed in the left eye. Hydration and empiric antibiotics were started after collection of the re...
متن کاملSweet and sour: unraveling diabetic vascular disease.
Diabetes is the epidemic of the 21st century.1 Rare in the past, diabetes has grown into an increasingly common disease both in developed countries and most recently also in the third world. The most important factor for this unforeseen trend appears to be the increase in body weight around the world attributable to the changes in lifestyle over the last decades.2 It is likely that the increasi...
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ژورنال
عنوان ژورنال: Journal of Inherited Metabolic Disease
سال: 2017
ISSN: 0141-8955,1573-2665
DOI: 10.1007/s10545-017-0029-3