Classic 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 first-degree healthy cousins, presented with persistent vomiting, failure to thrive, lethargy, and jaundice. Corneal opacity was...

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Veröffentlicht in:	Medical principles and practice 2010-01, Vol.19 (4), p.324-326
Hauptverfasser:	Faras, Hadeel, Al-Raqum, Fayka, Ramadan, Dina
Format:	Artikel
Sprache:	eng
Schlagworte:	Case Report Corneal Opacity - diagnosis Corneal Opacity - enzymology Corneal Opacity - pathology Galactosemias - diagnosis Galactosemias - enzymology Galactosemias - pathology Humans Infant, Newborn Male UTP-Hexose-1-Phosphate Uridylyltransferase - deficiency
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