Assays / Genetic Enzymes / Krabbe Disease

This disease (also called globoid cell leucodystrophy) has an onset of 3-6 months with vague signs of irritability, hypersensitivity to slight stimuli and some joint stiffness. There is then rapid neurological degeneration with hypertonicity and, later, hypotonicity, blindness and deafness. A peripheral neuropathy is usually present. Symptoms are confined to the nervous system, there being no visceromegaly or skeletal changes. Patients with the classical presentation rarely survive beyond two years, but later onset cases with a more prolonged course are not uncommon.

ENZYME TESTS: Deficiency of galactocerebrosidase is the primary defect.

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