Mucopolysaccharidosis type IV Morquio disease

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CheckRare

CheckRare

Күн бұрын

Heather A. Lau, MD, Assistant Professor, Department of Neurology; Associate Director, Division of Neurogenetics; Director, Lysosomal Storage Disease Program at NYU Langone Health provides an overview of Mucopolysaccharidosis type IV (MPS IV) or Morquio disease.
MPS IV is a rare metabolic condition in which the body is unable to break down long chains of sugar molecules called glycosaminoglycans. As a result, toxic levels of these sugars accumulate in cell structures called lysosomes, leading to the various signs and symptoms associated with the condition. Affected people generally develop features of MPS IV between the ages of 1 and 3. These signs and symptoms may include abnormalities of the skeleton, eyes, heart and respiratory system. There are two forms of MPS IV:
- MPS IVA is caused by changes (mutations) in the GALNS gene
- MPS IVB is caused by mutations in the GLB1 gene
Both forms are inherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each person.

Пікірлер: 5
@shireensutherland3272
@shireensutherland3272 4 жыл бұрын
I live with MPS IV A. Me and my brother have it. We’ve had many countless surgeries. My MPS is not as severe as my little brothers MPS. Vimizim has helped me become more energetic but it hasn’t helped my brother at all. He has a trachea now. I’m my brothers keeper. I help our mom with him. We have 2 younger sisters who shouldn’t be burdened with helping our mom with us. They don’t have MPS. They have a life that they should be living right now. They have friends who they barely get to see because they babysit us, and help in any way with us. My mom goes to JPCH for my little brothers appointments and if he’s sick. She has friends that she rarely ever sees. MPS is good to have if you are wanting all the attention but sometimes it’s a bad thing to have. You have to stop doing whatever you liked to do eg jumping on trampolines, going skating, swimming (you don’t have to stop that but you do have to wear a life jacket) rollerblading, cartwheels, front flips, back flips, cooking etc.
@heavensighs9809
@heavensighs9809 3 жыл бұрын
More power to you lad. Stay strong. Always remember it's a part of you, not all of you .
@tanishabaniwal8628
@tanishabaniwal8628 3 жыл бұрын
Mam please suggest some recovery details for mpsIV A disorder My niece is suffering from this disorder And we have no any clue to how to manage her situation She is just 7 years old And her health situation is very bad So please mam suggest us some recovery tips & details
@narendrabhargava7886
@narendrabhargava7886 2 жыл бұрын
@@tanishabaniwal8628 how is his condition now?
@PuzzlePlanet622
@PuzzlePlanet622 2 жыл бұрын
I am suffering from this
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