Case report:- Molecular basis and clinical impact of Krabbe disease

Key Points

• The clinical impact of Krabbe disease is significant, leading to severe neurological decline at an early age.
• A specific genetic mutation affecting galactocerebrosidase was identified in the patient, underscoring a molecular basis.
• Assessment of symptoms including developmental delays and motor issues highlights the disease's progression.
• Understanding the molecular mechanisms calls for improved genetic screening in at-risk populations.