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130:). However, ML III produces less severe symptoms and progresses more slowly, probably because the defect in GlcNAc phosphotranspherase lies in its protein recognition domain. Therefore, the catalytic domain retains some of its activity, resulting in a smaller accumulation of carbohydrates, lipids, and proteins in the
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has proven effective at relieving muscle stiffness and increasing mobility. The use of crutches, a wheelchair or scooters are treatment options as the metabolic bone disease progresses. The insertion of rods in the spine to stabilize the vulnerable areas can treat
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disease and mild enlargement of organs. Some children with severe forms of this disease do not live beyond childhood. However, there is a great variability among patients – there are diagnosed individuals with ML III living in their sixties.
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There is no cure for Pseudo-Hurler
Polydystrophy/Mucolipidosis IIIA. Treatment is limited to controlling or reducing symptoms associated with this disorder. Physio-therapy, particularly
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190:. Heart valve replacement surgery may be necessary as this disorder progresses. Enzyme replacement therapy has been suggested as a potential treatment.
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Bargal R, Zeigler M, Abu-Libdeh B, et al. (August 2006). "When
Mucolipidosis III meets Mucolipidosis II: GNPTA gene mutations in 24 patients".
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101:(intelligence is challenged) instead of using the mental retardation classification. These patients usually have skeletal abnormalities,
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Murray, R, Granner, D, and
Rodwell, V. (2006). Harper's Illustrated Biochemistry. 27th ed. New York: Lange Medical Books/McGraw-Hill.
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Symptoms of ML III are often not noticed until the child is 3–5 years of age. Patients with ML III are generally of normal
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219:"Mucolipidosis III alpha/beta | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program"
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126:(I-cell disease), Mucolipidosis III results from genetic defects in GlcNAc phosphotransferase (
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77:(ML II). This disorder is called Pseudo-Hurler because it resembles a mild form of
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Pseudo-Hurler polydystrophy is inherited in an autosomal recessive manner.
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442:- original text of article derived from detail sheet available here
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128:N-acetylglucosamine-1-phosphotransferase
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541:Pseudo-Hurler polydystrophy (ML III)
509:Congenital disorder of glycosylation
105:, short height, corneal clouding,
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640:Glycoprotein metabolism disorders
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519:Post-translational modification
1:
645:Autosomal recessive disorders
30:Mucolipidosis III alpha/beta
63:Pseudo-Hurler polydystrophy,
262:10.1016/j.ymgme.2006.03.003
22:Pseudo-Hurler polydystrophy
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504:Dolichol kinase deficiency
477:Lysosomal storage diseases
97:(trait) or have only mild
223:rarediseases.info.nih.gov
71:lysosomal storage disease
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485:carbohydrate metabolism
557:Aspartylglucosaminuria
536:I-cell disease (ML II)
421:Mucolipidosis type 3 A
154:This section is empty.
107:carpal tunnel syndrome
103:coarse facial features
608:solute carrier family
65:also referred to as
73:closely related to
69:III (ML III), is a
574:Alpha-mannosidosis
393:External resources
229:on 8 November 2021
99:mental retardation
89:Signs and symptoms
83:mucopolysaccharide
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619:Galactosialidosis
591:Schindler disease
579:Beta-mannosidosis
524:lysosomal enzymes
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156:You can help by
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85:(MPS) diseases.
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231:. Retrieved
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158:adding to it
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111:aortic valve
95:intelligence
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562:Fucosidosis
27:Other names
634:Categories
586:Sialidosis
550:Catabolism
378:DiseasesDB
206:References
497:Anabolism
188:scoliosis
177:Treatment
138:Diagnosis
50:Specialty
402:Orphanet
270:16630736
233:11 April
194:See also
165:May 2017
372:D009081
320:5C56.20
361:252600
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122:As in
600:Other
440:NINDS
383:29378
350:272.7
335:E77.0
367:MeSH
356:OMIM
345:9-CM
266:PMID
235:2019
522:of
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438:at
425:NIH
423:at
407:577
341:ICD
326:ICD
311:ICD
258:doi
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Text is available under the Creative Commons Attribution-ShareAlike License. Additional terms may apply.
