This document provides an introduction to Mucopolysaccharidosis type VI (MPS VI), also known as Maroteaux-Lamy syndrome. MPS VI is a lysosomal storage disorder caused by a deficiency in the enzyme N-acetylgalactosamine-4-sulfatase (arylsulfatase B). The document outlines the clinical features and presentation of MPS VI, which can vary in severity. It then describes the study aims, participants, methods, instruments, ethical considerations and analysis that will be used to determine endocrine problems in patients with MPS VI in Duhok City, Kurdistan Region, Iraq.

1. Clinical, Endocrine & Genetic spectrums of
Mucopolysaccharidoses type VI in Duhok
city, Kurdistan region, Iraq
By
AZAD ABDUL JABAR HALEEM AL-MEZORI
Supervised by
PROF.DR.KHALED NAWAF ABDULRAHMAN

2. Mucopolysacchari
dosis VI (MPS VI)
Maroteaux-Lamy
syndrome

3. INTRODUCTION
• Mucopolysaccharidoses (MPS) are part of a clinically
heterogeneous group of diseases known as lysosomal
storage disorders (LSDs), of which there are over 60
different types.
• Symptoms of MPS occur because of deficiencies in
enzymes that break down glycosaminoglycans (GAGs) .
• Eleven different enzymes are responsible for the
stepwise degradation of GAGs, deficiencies in each of
which are responsible for seven different types of MPS.

4. INTRODUCTION
• Patients with MPS typically seem healthy at birth,
but symptoms usually appear during early
childhood as the concentration of GAGs in cells
increases.
• Clinical features can vary according to MPS
subtype, but coarse features, organomegaly,
skeletal and joint abnormalities, dysfunction in
vision and hearing and cardiorespiratory
problems are common across all MPS subtypes .

5. MPS VI or Maroteaux-Lamy syndrome
• MPS VI or Maroteaux-Lamy syndrome is an autosomal
recessive MPS disorder caused by deficiency in N-
acetylgalactosamine-4-sulfatase (arylsulfatase B).
• prevalence has been reported to range from 1 in 43,261
live births in Turkish immigrants living in Germany to 1 in
1,505,160 live births in Sweden .
• ASB catalyses the breakdown of dermatan sulphate, which
is present particularly in the skin, but is also found in
tendons, blood vessels, airways and heart valves.
• Preclinical data have shown that dermatan sulphate effects
an inflammatory response via the tumour necrosis factor
(TNF) pathway, and its accumulation results in apoptosis of
chondrocytes and ensuing progressive arthropathy.

6. • MPS VI is classified according to severity of
symptoms and is typically termed as being either
slowly or rapidly progressing; however, it is now
known that an intermediate form between slowly
and rapidly progressing MPS also exists.
• Presentation differs according to age of onset and
velocity of disease progression; and higher
urinary GAG levels are associated with rapidly
progressing disease.
MPS VI or Maroteaux-Lamy syndrome

7. • MPS VI develops due to mutations in the ARSB gene,
encoding for the enzyme ASB, located on chromosome
5q13-q14.
• Diagnosis is generally accepted by confirmation in an
accredited laboratory of ASB enzyme activity in
cultured fibroblasts or isolated leukocytes of < 10% of
the lower limit of normal and/or demonstration of two
disease-causing mutations.
• Symptoms of MPS VI include decreased growth
velocity, coarse facial features, skeletal deformities,
frequent upper-airway infections, enlarged liver and
spleen, hearing loss, joint stiffness and coarse hair.
MPS VI or Maroteaux-Lamy syndrome

8. • Abnormalities of cardiac valve anatomy and
function are present in all patients with MPS
VI and are attributed to the deposition of
dermatan sulphate within the cardiac valves.
• Endocrine changes had been reported like
growth hormone disorders & delay puberty.
MPS VI or Maroteaux-Lamy syndrome

9. MPS Type 6
Socio-demographic factors
Full name, age, gender,
address, birth weight,
gestational age, Feeding
history.
* Enzyme level will be reviewed
* Genetic study will be
reviewed to determine genetic
profile
Anthropometric
measurements:
Height , Weight , OFC
Aims of the study
determine endocrine problems

10. Patients and Methods
• study location
• Duhok/Kurdistan/ Iraq.
• Study Design
• A cross-sectional, Case Control study
• Study duration
• 1st August 2021 to 1st February 2022.
• Sample Size:
• All patients with MPS type IV will enrolled in
study.

11. Instruments & Data Collection
• A pre designed questionnaire will fill and all data
will keep confidential.
• The following information will take from each
patients in this study: Full name, age, gender,
address, birth weight, gestational age, Feeding
history.
• History will take from each patient.
• Details clinical examination will be performed.
• Anthropometric measurements: Height ,Weight
and OFC will measure . CDC growth chart will be
used.

12. Instruments & Data Collection
• From each one Enzyme level will be reviewed.
• From each one genetic study will be reviewed
to determine genetic profile.

13. Instruments & Data Collection
• X-ray of left wrist for bone age
• Echo study to determine cardiac changes.

14. Instruments & Data Collection
• From each one blood sample will take to
determine endocrine problems:
• TSH,T3,T4
• PTH, Vit D3, S.Ca, Spo4, Alkaline phospatese
• IGF, IGF BP3
• ACTH, S.cortisol

15. Ethical considerations:
• The ethical approval from the Directorate general
of health/Duhok & college of medicine/University
of Duhok will be obtained.
• Written Consent will be obtain from the
respondents parents.
• All parents have the right not to participate their
children in the study or to withdraw from the
measurements prior to its completion.
• All data will keep confidential.

16. Data Analysis
• SPSS (statistical package for the social
sciences) for windows version 19.
• A P-value of less than 0.05 was considered to
be statistically significant.
Patients and Methods

17. References
• NOTE: All the references will be revised by
using Vancouver style according to CARDIFF
UNIVERSITY- UK