What are Mucopolysaccharidosis?
The term mucopolysaccharidoses refers to a number genetic conditions that cause sugar to be excreted in urine. Most cases of mucopolysaccharidoses are diagnosed after a child is 12 months old. A physical exam and diagnostic tests, including a urine test, are used to diagnose mucopolysaccharidoses.
What are the symptoms of mucopolysaccharidosis?
- Enlarged head, lips, cheeks, tongue, and nose.
- Enlarged vocal cords, resulting in a deep voice.
- Frequent upper respiratory infections.
- Sleep apnea.
- Hepatosplenomegaly (enlarged liver and spleen)
- Umbilical hernia.
- Inguinal hernia.
What are the types of mucopolysaccharidosis?
What is Mucopolysaccharide and its function?
What is another name for mucopolysaccharidoses?
|Type||Common name Other names||OMIM|
|MPS IH||Hurler syndrome||607014|
|MPS IH/S||HurlerScheie syndrome||607015|
|MPS IS||Scheie syndrome Formerly: Mucopolysaccharidosis type V||607016|
|MPS II||Hunter syndrome||309900|