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Mucolipidosis Type IV

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Questions and Answers

What is the cause of Mucolipidosis type IV?

Mutations in the MCOLN4 gene

Mutations in the MCOLN3 gene

Mutations in the MCOLN2 gene

Mutations in the MCOLN1 gene (correct)

What is a common symptom of Mucolipidosis type IV?

Hepatic encephalopathy

Corneal opacity (correct)

Hyperthyroidism

Pulmonary embolism

What is the result of many of the known mutations in MCOLN1?

Expression of mutated mucolipin1

Increased expression of mucolipin1

No expression of mucolipin1 (correct)

Normal expression of mucolipin1

What is the physiological role of the protein product of the MCOLN1 gene?

The role is disputed and the ion it transports is unknown Signup and view all the answers

What is the carrier frequency of severe mutations in the Ashkenazi Jewish population?

1:90 to 1:100 Signup and view all the answers

What is the effect of achlorhydria in patients with Mucolipidosis type IV?

Results in an increase in blood gastrin levels Signup and view all the answers

What is the recommended diagnosis for mucolipidosis type IV?

Genetic testing and Gastrin blood test Signup and view all the answers

Where is mucolipin1 thought to be localized?

Endosomes Signup and view all the answers

What is the treatment approach for mucolipidosis type IV?

There is no specific treatment Signup and view all the answers

What is a characteristic feature of affected cells in ML IV?

Accumulation of auto-fluorescent vacuoles Signup and view all the answers