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inheriting only one copy of the defective gene. People who have only one defective gene are known as carriers. These individuals do not develop the disease but they can pass the defective gene on to their own children. Because the defective genes involved in certain forms of ML are known, tests can identify people who are carriers in some instances.
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tests. Symptoms of the disease are usually present at birth or begin in early childhood. Early symptoms can include skeletal abnormalities, vision problems, and developmental delays. Poor mental capacities, and difficulty reaching physical developmental milestones may also be result of mucolipidosis.
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There is currently no known treatment or specific therapy to cure this disease. However, there are multiple therapy techniques that can be used to help with some of the symptoms. Speech therapy and physical therapy may aid in a diagnosed child's motor and speech delays. Nutritional supplements such
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manner, that is, they occur only when a child inherits two copies of the defective gene, one from each parent. When both parents carry a defective gene, each of their children faces a one in four chance of developing one of the MLs. At the same time, each child also faces a one in two chance of
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204:. A biochemical understanding of these conditions has changed how they are classified. Four conditions (types I, II, III, and IV) were historically labeled as mucolipidoses. However, type I (
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that affect the body's ability to carry out the normal turnover of various materials within
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Julia A. McMillan; Ralph D. Feigin; Catherine DeAngelis; M. Douglas Jones (1 April 2006).
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Mucolipidosis types II and III (ML II and ML III) result from a deficiency of the enzyme
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as iron and vitamin B12 may also be required if the patient needs them.
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244:N-acetylglucosamine-1-phosphotransferase
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266:The mucolipidoses are inherited in an
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637:Pseudo-Hurler polydystrophy (ML III)
605:Congenital disorder of glycosylation
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310:Medical genetics of Ashkenazi Jews
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342:"Orphanet: Mucolipidosis type II"
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187:metabolic disorders
151:autosomal recessive
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41:Please help
36:verification
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658:Fucosidosis
132:Other names
730:Categories
682:Sialidosis
646:Catabolism
422:2010-11-03
401:3 November
351:2017-05-16
327:References
288:laboratory
236:(type III)
206:sialidosis
69:newspapers
593:Anabolism
501:SNOMED CT
295:Treatment
284:diagnosis
278:Diagnosis
271:recessive
268:autosomal
256:lysosomes
184:inherited
159:Specialty
525:Orphanet
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360:cite web
304:See also
262:Genetics
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490:MeSH
479:9-CM
403:2010
390:ISBN
366:link
282:The
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