Mucolipidosis
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Mucolipidosis | |
---|---|
Other names | ML |
autosomal recessive pattern of inheritance | |
Specialty | Endocrinology |
Mucolipidosis is a group of inherited metabolic disorders that affect the body's ability to carry out the normal turnover of various materials within cells.[1]
When originally named, the mucolipidoses derived their name from the similarity in presentation to both
ML II and III
The other two types are closely related.
Mucolipidosis types II and III (ML II and ML III) result from a deficiency of the enzyme
Genetics
The mucolipidoses are inherited in an
Diagnosis
The diagnosis of ML is based on clinical symptoms, a complete medical history, and certain laboratory 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.
Treatment
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 as iron and vitamin B12 may also be required if the patient needs them.
See also
- Medical genetics of Ashkenazi Jews
- mucolipidoses at NINDS
References
- ^ RESERVED, INSERM US14 -- ALL RIGHTS. "Orphanet: Mucolipidosis type II". www.orpha.net. Retrieved 2017-05-16.
{{cite web}}
: CS1 maint: numeric names: authors list (link) - ^ ISBN 978-0-7817-3894-1. Retrieved 3 November 2010.
- ^ "ICD-10". Retrieved 2010-11-03.