Galaktozemi: Atlanmaması Gereken Neonatal Sarılık Nedeni

Öz

Sarılık nedeniyle başvuran direk ve indirek hiperbilirubinemi saptanan yenidoğan olgusunda klasik galaktozemi tanısı konulmuş ve genetik mutasyon sonucuyla tanı doğrulanmıştır. Bu olgu, yenidoğan döneminde saptanan sarılığın galaktozemi açısından acil değerlendirilmesinin ve tedavisinin önemini vurgulamak için paylaşılmıştır.

Anahtar Kelimeler

• galaktozemi
• neonatal sarılık
• anne sütü

Galactosemia: Not To Be Missed Cause of Neonatal Jaundice

Öz

A case representing neonatal jaundice that includes direct and indirect hyperbilirubinemia was diagnosed with classical galactosemia. Even though she was initially approached as a neonatal sepsis case, after the cessation of her milk consumption, jaundice resolved, and the diagnosis was made and supported by additional diagnostic tools. It has been shared to emphasize the importance of assessment and urgent management of the disease during the neonatal period.

Anahtar Kelimeler

• galactosemia
• neonatal jaundice
• milk

Kaynakça

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