Voice disorders in children with classic galactosemia
نویسندگان
چکیده
منابع مشابه
Motor 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 کاملClassic 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 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 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 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...
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ژورنال
عنوان ژورنال: Journal of Inherited Metabolic Disease
سال: 2010
ISSN: 0141-8955,1573-2665
DOI: 10.1007/s10545-010-9213-4