In 1966, Maroteaux and Lamy first described four girls with pseudo-Hurler polydystrophy, a condition milder in severity than the Hurler syndrome and similar to the Scheie syndrome but without hepatosplenomegaly, cloudy cornea or mucopolysacchariduria. In 1970, Spranger and Wiedemann designated pseudo-Hurler polydystrophy as mucolipidosis III because of Hurler-like features and vacuolated bone marrow cells (Kelly et al. 1975b).
Synonyms and Related Disorders
Pseudo-Hurler Polydystrophy
Genetics/Basic Defects
- 1.
Inheritance: autosomal recessive
- 2.
Basic defect
- a.
Resulting from deficiency of the enzyme UDP-N-acetylglucosamine: lysosomal protein precursor N-acetyl glucosamine 1-phosphate transferase (G1cNAcPT) (Mucolipidosis II also caused by deficiency of the same enzyme)
- b.
Genetic complementation analysis of cultured fibroblasts derived from patients with mucolipidosis III identified complementation groups A, B, and C.
- c.
Inability to form the correct recognition marker on lysosomal...
- a.
References
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(2012). Mucolipidosis III. In: Chen, H. (eds) Atlas of Genetic Diagnosis and Counseling. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-1037-9_167
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