Mucolipidosis type IV

Jump to: navigation, search

WikiDoc Resources for Mucolipidosis type IV

Articles

Most recent articles on Mucolipidosis type IV

Most cited articles on Mucolipidosis type IV

Review articles on Mucolipidosis type IV

Articles on Mucolipidosis type IV in N Eng J Med, Lancet, BMJ

Media

Powerpoint slides on Mucolipidosis type IV

Images of Mucolipidosis type IV

Photos of Mucolipidosis type IV

Podcasts & MP3s on Mucolipidosis type IV

Videos on Mucolipidosis type IV

Evidence Based Medicine

Cochrane Collaboration on Mucolipidosis type IV

Bandolier on Mucolipidosis type IV

TRIP on Mucolipidosis type IV

Clinical Trials

Ongoing Trials on Mucolipidosis type IV at Clinical Trials.gov

Trial results on Mucolipidosis type IV

Clinical Trials on Mucolipidosis type IV at Google

Guidelines / Policies / Govt

US National Guidelines Clearinghouse on Mucolipidosis type IV

NICE Guidance on Mucolipidosis type IV

NHS PRODIGY Guidance

FDA on Mucolipidosis type IV

CDC on Mucolipidosis type IV

Books

Books on Mucolipidosis type IV

News

Mucolipidosis type IV in the news

Be alerted to news on Mucolipidosis type IV

News trends on Mucolipidosis type IV

Commentary

Blogs on Mucolipidosis type IV

Definitions

Definitions of Mucolipidosis type IV

Patient Resources / Community

Patient resources on Mucolipidosis type IV

Discussion groups on Mucolipidosis type IV

Patient Handouts on Mucolipidosis type IV

Directions to Hospitals Treating Mucolipidosis type IV

Risk calculators and risk factors for Mucolipidosis type IV

Healthcare Provider Resources

Symptoms of Mucolipidosis type IV

Causes & Risk Factors for Mucolipidosis type IV

Diagnostic studies for Mucolipidosis type IV

Treatment of Mucolipidosis type IV

Continuing Medical Education (CME)

CME Programs on Mucolipidosis type IV

International

Mucolipidosis type IV en Espanol

Mucolipidosis type IV en Francais

Business

Mucolipidosis type IV in the Marketplace

Patents on Mucolipidosis type IV

Experimental / Informatics

List of terms related to Mucolipidosis type IV

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:

Mucolipidosis type IV
ICD-10 E75.1
OMIM 252650
DiseasesDB 32693
MeSH C05.116.198.371

Overview

Mucolipidosis type IV (ML IV), like other types of mucolipidosis is an inherited neurodegenerative lysosomal storage disorder. Patients with this autosomal recessive disorder have symptoms including delayed psychomotor development and various ocular aberrations. This type of mucolipidosis is caused by mutation of a non-selective cation channel, TRPML1. These mutations disrupt lysosomal storage and lead to neurodegeneration through an unknown mechanism.

Historical Perspective

Classification

Pathophysiology

ML IV is caused by mutations in the cation channel TRPML1 (Mucolipin-1). TRPML1 is localized in endosomes and may function as either a proton leak channel and/or aid in the regulation of calcium levels. An important property of TRPML1 is that decreasing pH (acidification) results in deactivation of the protein, likely through an assembly defect. There are 10 mutations in TRPML1, located throughout the channel. Three of these mutations (Q79X, R102X and R172X) result in early truncation of the channels and the loss of functional protein. The other seven mutations result in either amino acid substitution or deletion. Of these, V446I and ΔF408 are known to be functional as channels. In these mutants, however, there is no acidification induced defect in assembly. These alterations result in the blockage of endocytic transport and prevention of lysosome formation. Over-acidification of these organelles may result in decreased lipase activity. This decreased lipase activity might then result in the increased levels of lipids and membraneous materials seen in patients. Alternatively, build-up of intra-compartmental calcium may prevent the fusion processes in these organelles.

Causes

Differentiating Mucolipidosis type IV from Other Diseases

Epidemiology and Demographics

Ashkenazi Jews have a high carrier frequency of 1:90 to 1:100.

Risk Factors

Screening

Natural History, Complications, and Prognosis

Diagnosis

Diagnostic Criteria

History and Symptoms

Most patients with ML IV show psychomotor retardation (i.e., delayed development of movement and coordination), corneal opacity, retinal degeneration and other ophthalmological abnormalities. Other symptoms include agenesis of the corpus callosum, iron deficiency, and improper stomache pH (achlorohydria). Achlorhydria in these patients results in an increase in blood gastrin levels. These symptoms typically manifest early in life (within the first year) and progress slowly.

Physical Examination

Laboratory Findings

Imaging Findings

Other Diagnostic Studies

Treatment

See the equivalent section in the main mucolipidosis article.

Medical Therapy

Surgery

Prevention

References

  • Nilius B, Owsianik G, Voets T, Peters JA (2007). "Transient receptor potential cation channels in disease". Physiol. Rev. 87 (1): 165–217. doi:10.1152/physrev.00021.2006. PMID 17237345.



Linked-in.jpg