📘 Mucolipidoses · I-Cell Disease (ML II) & Pseudo-Hurler Polydystrophy (ML III)

Nelson Textbook of Pediatrics 22nd Ed — Section 106.5. GNPTAB mutations → defective GlcNAc-1-phosphotransferase → impaired lysosomal enzyme trafficking. Coarse facies, dysostosis multiplex, gingival hyperplasia, normal urine GAGs, elevated serum lysosomal enzymes.