Maroteaux Lamy Syndrome (MLS), also known as Mucopolysaccharidosis Type VI (MPS VI), is a rare genetic lysosomal storage disorder caused by a deficiency of the enzyme Arylsulfatase B. This enzyme deficiency prevents the breakdown of glycosaminoglycans like dermatan sulfate. As a result, these complex carbohydrates accumulate abnormally in tissues and organs. MLS is inherited in an autosomal recessive pattern and signs include skeletal abnormalities, enlarged organs, cloudy corneas, heart issues, and respiratory problems. Diagnosis involves testing for elevated glycosaminoglycan levels in urine and reduced Arylsulfatase B enzyme activity in blood. Treatment options include enzyme

1. Maroteaux Lamy Syndrome

2. Lysosomal Storage Disorder
• Mucopolysaccharidoses are group of
inherited lysosomal storage disorders.
• Lysosomes function as primary
digestive units within cells.
• Enzymes within lysosomes break down or digest particular metabolites, such
as certain carbohydrates and fats.
• Deficiency or malfunction of specific lysosomes enzymes lead to abnormal
accumulation of certain complex carbohydrates known as
Mucopolysaccharides or Glycosaminoglycans.

3. Maroteaux Lamy Syndrome
• Arylsulfatase - B Deficiency
• MPS 6
• MPS type VI
• MPS VI
• Mucopolysaccharidosis type VI
• Polydystrophic dwarfism

4. Epidimiology
• Male and female are affected in equal
proportion.
• Occur 1:250000 – 600000 individuals

5. Introduction
• Inherited lysosomal storage disorder
• Rare genetic disorder
• Autosomal recessive
• Mutation in the ARSB gene (Arylsulfatase B gene)
• Partial/Complete lack of activity of the enzymes ARYLSULFATASE B
(N-ACETYLGALACTOSAMINE-4-SULFATASE)

6. • Mutation in the ARSB gene
• Which encodes the lysosomal enzyme Arylsulfatase B
• Deficiency of these enzymes lead to accumulation of dermatan sulfate and
chondritin sulfate in cells of various tissue
• As body cannot breakdown glycosaminoglycans.
• Lead to abnormal accumulation of complex carbohydrates(GAG) in various
organ – leading to multi-organ failure.

7. Autosomal Recessive Inheritance
- 25 %
- 50 %
- 25 %

8. MLS
• Rapidly progressive MLS
– Onset of symptoms before age of 3 years
– Walking problem by age of 10 years
– Delayed or absence of puberty
– Risk of heart failure by second or third decades of life
• Slowly progressive MLS
– Later onset
– Diagnose usually after 5 year of age(2nd and 3rd decades)

9. Skeletal Abnormalities
• Dysostosis Multiplex (Group of skeletal deformities)
– Thickened , short bone of the palm and hands(Metacarpals)
– Underdevelope (Hypoplastic) and irregular carpal bones
– Abnormal tarsal bones
– Dysplastic femoral head and severe malformation of the hip
– Abnormalities of the ribs and spine
– Thickened clavicle
– Underdevelopment of bone of forearm
– Prominent breast bone (Pectus carinatum)
– Abnormal curvature of spine
– Knock-knees (Genu valgum)
– Carpal tunnel syndrome
– Tarsal tunnel syndrome

10. • Face and Neck
– Chubby faces
– Thickened lips (Gingival
hypertrophy)
– Frontal bossing
– Broad and flattened bridge
of nose
– Macroglossia
– Hirsutism
• Eye
– Clouding of cornea
• Vision loss
• Reduce peripheral vision
– Glaucoma (Increase IOP)
• Thinning, cupping or
notching of the disc rim
– Optic atrophy
• Heart
– Hypertension
– Valvular hear diseases
• AS,MS,AR,MR
– Heart failure
• Respiratory
– Obstructive airways diseases
– Breathlessness
– Recurrent pneumonia
– Tracheomalacia
• Nose and Ear
– Rhinorrhea
– Otitis media
• Conductive hearing
loss
– Damage to inner ear nerve
• Sensorinural
hearing loss
• Head
– Hydrocephalus
• Abdomen
– Hepatomegaly
– Splenomegaly
– Umbilical hernias
• Intelligence is usually not affected in
MLS.
• However learning difficulties are present
due to Visual and Hearing loss.

11. Diagnosis
• Elevated levels of GAG in urine (Mainly Dermatan
sulfate)
• Blood Sample – Measure activity of the enzymes
Arylsulfatase B
• Sequencing of ARSB gene should be performed
to identify the causative mutation.

12. Differential Diagnosis
• Scheie Syndrome (MPS-1)
– Deficiency of enzyme Alpha-L-Iduronidase
• Multiple Sulfatase Deficiency
– All seven sulfatase enzymes are not functional.
– All sulfatase enzyme deficiency will be present in blood sample.
– These patient may not learn to walk or speak.

13. Treatment
• Standeres Therapy
– Enzyme Replacement Therapy
• Naglazyme (Galsulfase) ERT which is genetically engineered (Recombinant) version.
• Investigational Therapies
– Hematopoetic Stem Cell Transplantation
– Pentosan poly-sulfate (PPS)
• Anti-inflamatory and pro-chondrogenic properties, lead to reduction in GAG in urine and
improvement in joint mobility and pain score. ( Under trails )
– Gene Therapy