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Published on: February 29, 2020
Classic galactosemia presenting with unilateral Peters' anomaly
Hadeel Faras1, Fayka Al-Raqum, Dina Ramadan
1Department of Pediatrics, Al-Sabah Hospital, Ministry of Health, 1304 Kuwait City, Kuwait. hyfaras@yahoo.com
Summary
This case report details classic galactosemia, a metabolic disorder, presenting with the rare ocular condition Peters
Area of Science:
- Medical Genetics
- Ophthalmology
- Metabolic Disorders
Background:
- Classic galactosemia is an inherited metabolic disorder caused by deficient galactose-1-phosphate uridyltransferase.
- Consanguinity increases the risk of autosomal recessive disorders.
Observation:
- A neonate born to consanguineous parents presented with vomiting, failure to thrive, lethargy, and jaundice.
- Corneal opacity was noted in the left eye.
Findings:
- Diagnosis of classic galactosemia confirmed by erythrocyte galactose-1-phosphate uridyltransferase deficiency.
- Left unilateral Peters' anomaly diagnosed in the affected neonate.
Implications:
- Highlights a rare association between classic galactosemia and Peters' anomaly.
- Emphasizes the importance of comprehensive metabolic and ophthalmologic evaluation in neonates with consanguineous parentage.
- Suggests a potential genetic link possibly due to autosomal recessive inheritance in consanguineous families.
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