ArticleClinical case reports2025
Unusual Presentation of Classical Galactosemia: A Case Report of Iranian Experience.
Article in Clinical case reports, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Galactosemia is a rare autosomal recessive metabolic disorder with four main types, and classic galactosemia is the most prevalent. These patients have galactose-1-phosphate-uridyltransferase deficiency. We report on a case of an infant who was admitted with poor feeding, lethargy, and poor weight gain. Based on the clinical symptoms and laboratory findings, the patient was considered to have a metabolic disorder. The patient had unusual presentations such as macrocytic anemia requiring blood transfusions, repeatedly metabolic acidosis requiring bicarbonate therapy and failure to thrive in addition to neurodevelopmental delay which led the authors to different diagnoses and suspect to mitochondrial disorders. Finally, in one of the assessments before blood transfusion, a high galactose-1 phosphate was detected, and galactose-free diet was started which led to neurologic and physical of the child. The whole-exome sequencing (WES) also revealed a likely pathogenic homozygous mutation in
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