mucolipidosis type III

mucolipidosis type III

Abbreviation: ML III
A rare autosomal recessive disease characterized by bone and joint anomalies, esp. of hip and spine development; eye diseases; and sometimes mild mental retardation. It typically becomes clinically recognizable in childhood or young adulthood.
Synonym: pseudo-Hurler polydystrophy
See also: mucolipidosis
Medical Dictionary, © 2009 Farlex and Partners
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References in periodicals archive ?
Three novel homozygous mutations in the GNPTG gene that cause mucolipidosis type III gamma.
Enlarged follicles and temporomandibular joint abnormalities in mucolipidosis Type III. Dentomaxillofac Radiol 2013;42:22822014.
Mucolipidosis type III in an adolescent presenting with atypical facial features and skeletal deformities.
Oral findings in patients with mucolipidosis type III. Braz Dent J 2012;23:461-6.
Mucolipidosis type III [alpha]/[beta] (ML III, also known as pseudo-Hurler polydystrophy) is a rare autosomal recessive disorder of lysosomal hydrolase trafficking that displays prominent skeletal involvement.
Mucolipidosis type III [alpha]/[beta] is a rare autosomal recessive lysosomal storage disease with prominent skeletal involvement.
Mucolipidosis type III [gamma],a disorder clinically indistinguishable from ML III, results from mutations in the gene coding for the [gamma] subunit for substrate recognition and binding.
Combined tarsal and carpal tunnel syndrome in mucolipidosis type III: a case study and review.