Nelson Textbook of Pediatrics 22nd Edition โ X-linked lysosomal storage disorder due to GLA mutations (ฮฑ-galactosidase A deficiency). Accumulation of globotriaosylceramide (Gb3). Acroparesthesias (burning pain), angiokeratomas, hypohidrosis, corneal opacities (cornea verticillata), progressive renal failure, hypertrophic cardiomyopathy, stroke. Enzyme replacement therapy (agalsidase alfa/beta).
๐ paeds.online โ Pakistan's Pediatric Platform| System | Manifestations |
|---|---|
| Neurologic (small fiber neuropathy) | Acroparesthesias (burning pain in hands/feet), episodic pain crises (fever, exercise, stress), hypohidrosis (decreased sweating), autonomic dysfunction |
| Dermatologic | Angiokeratomas (red-black telangiectasias) โ perineum, scrotum, buttocks, periumbilical; hypohidrosis |
| Ocular | Cornea verticillata (whorl-like corneal opacities) โ pathognomonic; cataracts, tortuous retinal vessels |
| Renal | Proteinuria, progressive renal insufficiency, end-stage renal disease (3rd-4th decade) |
| Cardiac | Hypertrophic cardiomyopathy (LVH), conduction defects, arrhythmias, valvular disease, coronary artery disease |
| Cerebrovascular | Stroke (ischemic/hemorrhagic) at young age, white matter lesions |
| Gastrointestinal | Abdominal pain, diarrhea, postprandial bloating |
Agalsidase alfa (Replagal) and agalsidase beta (Fabrazyme): Recombinant human ฮฑ-galactosidase A. IV infusion every 2 weeks. Reduces pain, stabilizes renal function, reduces LVH. Best results with early initiation before organ damage.
Chaperone therapy (migalastat, Galafold): Oral small molecule for patients with amenable GLA mutations (certain missense mutations). Improves enzyme activity. Not for null mutations.
Pain management: Gabapentin, pregabalin, carbamazepine for neuropathic pain. Avoid triggers (heat, exercise).