Mucopolysaccharidosis Flashcards
1
Q
What are the symptoms of Mucopolysaccharidiosis?
A
Short stature Stiff joints (especially in hands) Corneal clouding Intellectual delay in children with Hurler syndrome Orthopedic issues -Knock knee or leg bowing -Upper cervical spine abnormalities -Kyphosis -Carpal tunnel and trigger finger
2
Q
What gene is involved in Mucopolysaccharidiosis?
A
IDUA gene
3
Q
What is the inheritance pattern for Mucopolysaccharidiosis?
A
Autosomal recessive
4
Q
What are the phenotype for heterozygote?
A
They are carriers
no signs and symptoms of the disease
