Talking about rare disease

HUNTER might sound like a cool name for a character in a World of Warcraft or Marvel Universe movie but in medicine, it is not. It’s the name for an incurable disease that can befall children as young as 18 months old.

The name is alien not only to the public as even clinicians might also be hard-pressed to recall that it refers to an inherited genetic disorder caused by a malfunctioning or missing enzyme. Because there aren’t enough of the enzyme to break down certain complex molecules, these molecules build up in harmful amounts. The massive build-up would eventually cause permanent and progressive damage, affecting the appearance, mental development, organ function and physical abilities of the patient.

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