MUCOPOLYSACCHARIDOSIS - EASY NOTES

GAG’s are degraded by enzymes called lysosomal hydrolases.

•Deficiency of these enzymes leads to accumulation of GAG’s and a group hereditary diseases called as Mucopolysaccharidoses.

•The diseases are rare and inherited as autosomal recessive trait.

•The GAG’s are accumulated in liver, spleen, skin, bones and CNS.

•The cause of the enzyme deficiency is mutation of the enzyme gene.

•These diseases are progressive in nature.

•Children are normal at birth and gradually show changes in appearance and deteriorate.

•Severely affected children die at early childhood.

•Out of all Hurlers Syndrome and Hunters syndrome are common.

Clinical features

•Typical Facial Appearance

•Flat Nasal Bridge And Thick Lips

•Short Torso

•Organomegaly – Enlargement of Liver, Spleen And Heart.

•Multiple Organs Are Affected

•Skeletal Abnormalities Are Seen With Abnormal Bone Size

•Mental Retardation

•Hearing Loss And Visual Impairment

Diagnosis

•Assay of suspected enzyme

•Identification of accumulated GAG by tissue biopsy by electrophoresis

• Genetic analysis by specific genes.