The document discusses lysosomal storage disorders called mucopolysaccharidoses (MPS). MPS are caused by deficiencies of enzymes that break down glycosaminoglycans, leading to lysosomal accumulation in cells. This causes cellular dysfunction and clinical features. Symptoms vary but can include coarse facial features, bone abnormalities, organomegaly, developmental delays, and corneal clouding. Diagnosis involves enzyme testing and imaging. Management focuses on supportive care, enzyme replacement therapy, hematopoietic stem cell transplantation, and surgery. Complications range from hearing loss to cardiovascular and pulmonary involvement.
Disorders of amino acid metabolism
Disorders of renal amino acid transport
Disorders of carbohydrate metabolism and transport
Carbohydrate-deficient protein syndromes
carbohydrate metabolism and transport
Disorders of fatty acid oxidation
Disorders of purine and pyrimidine metabolism
Disorders of lipid and lipoprotein metabolism
Ceroid lipofuscinosis and other lipidoses.
Disorders of serum lipoproteins
Lysosomal disorders
Peroxisomal disorders
Disorders of metal metabolism
Porphyrias
Disorders of amino acid metabolism
Disorders of renal amino acid transport
Disorders of carbohydrate metabolism and transport
Carbohydrate-deficient protein syndromes
carbohydrate metabolism and transport
Disorders of fatty acid oxidation
Disorders of purine and pyrimidine metabolism
Disorders of lipid and lipoprotein metabolism
Ceroid lipofuscinosis and other lipidoses.
Disorders of serum lipoproteins
Lysosomal disorders
Peroxisomal disorders
Disorders of metal metabolism
Porphyrias
The most common lysosomal storage disease,
Incidence: approximately 1 in 40,000 for non-Jewish populations
Caused by a deficiency of the enzyme glucocerebrosidase
The glycolipid glucocerebroside accumulates in lysosomes of macrophages
Lipid-filled Gaucher cells displace normal cells in
Bone marrow
Spleen
Liver
Lungs
CNS
Skeletal disease is slow to respond to ERT and widely varies.
Some patients describe symptomatic improvement within the first year of treatment, although a much longer period of ERT is required to achieve a radiologic response.
October is the global awareness month of Niemann-Pick Disease (NPD), a fatal inherited metabolic disorder. Hence, I am sharing a presentation I made on NPD in 2013 in this month of 2016.
Gaucher disease is an inherited disorder that
affects many of the body's organs and tissues. The signs and symptoms of this
condition vary widely among affected individuals. Researchers have described
several types of Gaucher disease based on their characteristic features.
Type 1 Gaucher disease is the most common
form of this condition. Type 1 is also called non-neuronopathic Gaucher disease
because the brain and spinal cord (the central nervous system) are usually not
affected. The features of this condition range from mild to severe and may
appear anytime from childhood to adulthood. Major signs and symptoms include
enlargement of the liver and spleen (hepatosplenomegaly), a low number of red
blood cells (anemia), easy bruising caused by a decrease in blood platelets
(thrombocytopenia), lung disease, and bone abnormalities such as bone pain,
fractures, and arthritis.
Types 2 and 3 Gaucher disease are known as
neuronopathic forms of the disorder because they are characterized by problems
that affect the central nervous system. In addition to the signs and symptoms
described above, these conditions can cause abnormal eye movements, seizures,
and brain damage. Type 2 Gaucher disease usually causes life-threatening
medical problems beginning in infancy. Type 3 Gaucher disease also affects the
nervous system, but tends to progress more slowly than type 2.
The most severe type of Gaucher disease is
called the perinatal lethal form. This condition causes severe or
life-threatening complications starting before birth or in infancy. Features of
the perinatal lethal form can include extensive swelling caused by fluid
accumulation before birth (hydrops fetalis); dry, scaly skin (ichthyosis) or
other skin abnormalities; hepatosplenomegaly; distinctive facial features; and
serious neurological problems. As its name indicates, most infants with the
perinatal lethal form of Gaucher disease survive for only a few days after
birth.
Another form of Gaucher disease is known as
the cardiovascular type because it primarily affects the heart, causing the
heart valves to harden (calcify). People with the cardiovascular form of
Gaucher disease may also have eye abnormalities, bone disease, and mild
enlargement of the spleen (splenomegaly).
AR inherited disorder of impaired copper excretion characterized by excessive deposition of copper in many tissues and organs, principally the liver, brain, and eye. • Discovered by Samuel Alexander kinnier Wilson. Liver fails to excrete sufficient Cu via the bile, and the ability to incorporate Cu into CP is diminished Due to loss of function mutations of the ATP7B gene on chromosome 13, which encodes a copper-transporting ATPase (ATP7B). Most common presentations are with liver disease or neuro- psychiatric disturbances. Kayser–Fleischer ring is the clinical hallmark of WD. caused by deposition of copper in Desçemet’s membrane of cornea. Penicillamine is the of choice.
Mitochondrial disease includes a group of neuromuscular diseases caused by damage to intracellular structures that produce energy, the mitochondria; disease symptoms usually involve muscle contractions that are weak or spontaneous.
Leber's hereditary optic neuropathy (LHON)
Leigh syndrome,
Myoneurogenic gastrointestinal encephalopathy (MNGIE)
KSS – (Kearns-Sayre Syndrome)
The most common lysosomal storage disease,
Incidence: approximately 1 in 40,000 for non-Jewish populations
Caused by a deficiency of the enzyme glucocerebrosidase
The glycolipid glucocerebroside accumulates in lysosomes of macrophages
Lipid-filled Gaucher cells displace normal cells in
Bone marrow
Spleen
Liver
Lungs
CNS
Skeletal disease is slow to respond to ERT and widely varies.
Some patients describe symptomatic improvement within the first year of treatment, although a much longer period of ERT is required to achieve a radiologic response.
October is the global awareness month of Niemann-Pick Disease (NPD), a fatal inherited metabolic disorder. Hence, I am sharing a presentation I made on NPD in 2013 in this month of 2016.
Gaucher disease is an inherited disorder that
affects many of the body's organs and tissues. The signs and symptoms of this
condition vary widely among affected individuals. Researchers have described
several types of Gaucher disease based on their characteristic features.
Type 1 Gaucher disease is the most common
form of this condition. Type 1 is also called non-neuronopathic Gaucher disease
because the brain and spinal cord (the central nervous system) are usually not
affected. The features of this condition range from mild to severe and may
appear anytime from childhood to adulthood. Major signs and symptoms include
enlargement of the liver and spleen (hepatosplenomegaly), a low number of red
blood cells (anemia), easy bruising caused by a decrease in blood platelets
(thrombocytopenia), lung disease, and bone abnormalities such as bone pain,
fractures, and arthritis.
Types 2 and 3 Gaucher disease are known as
neuronopathic forms of the disorder because they are characterized by problems
that affect the central nervous system. In addition to the signs and symptoms
described above, these conditions can cause abnormal eye movements, seizures,
and brain damage. Type 2 Gaucher disease usually causes life-threatening
medical problems beginning in infancy. Type 3 Gaucher disease also affects the
nervous system, but tends to progress more slowly than type 2.
The most severe type of Gaucher disease is
called the perinatal lethal form. This condition causes severe or
life-threatening complications starting before birth or in infancy. Features of
the perinatal lethal form can include extensive swelling caused by fluid
accumulation before birth (hydrops fetalis); dry, scaly skin (ichthyosis) or
other skin abnormalities; hepatosplenomegaly; distinctive facial features; and
serious neurological problems. As its name indicates, most infants with the
perinatal lethal form of Gaucher disease survive for only a few days after
birth.
Another form of Gaucher disease is known as
the cardiovascular type because it primarily affects the heart, causing the
heart valves to harden (calcify). People with the cardiovascular form of
Gaucher disease may also have eye abnormalities, bone disease, and mild
enlargement of the spleen (splenomegaly).
AR inherited disorder of impaired copper excretion characterized by excessive deposition of copper in many tissues and organs, principally the liver, brain, and eye. • Discovered by Samuel Alexander kinnier Wilson. Liver fails to excrete sufficient Cu via the bile, and the ability to incorporate Cu into CP is diminished Due to loss of function mutations of the ATP7B gene on chromosome 13, which encodes a copper-transporting ATPase (ATP7B). Most common presentations are with liver disease or neuro- psychiatric disturbances. Kayser–Fleischer ring is the clinical hallmark of WD. caused by deposition of copper in Desçemet’s membrane of cornea. Penicillamine is the of choice.
Mitochondrial disease includes a group of neuromuscular diseases caused by damage to intracellular structures that produce energy, the mitochondria; disease symptoms usually involve muscle contractions that are weak or spontaneous.
Leber's hereditary optic neuropathy (LHON)
Leigh syndrome,
Myoneurogenic gastrointestinal encephalopathy (MNGIE)
KSS – (Kearns-Sayre Syndrome)
General approach to patient with genetic disorders and skeletal dysplasias. Approach to children with dwarfism and classification into various categories and further management of the cases based upon the recent knowledge of genetics and recent advances.
Prof Mridul Panditrao puts forward his ideas about the correlation between Genetics and Anesthesia, the impact of them on each other and the concerns of the Anesthesiologists in dealing with these patients!
Cystinosis is the most common hereditary cause of renal Fanconi syndrome in children.
It is an autosomal recessive lysosomal storage disorder caused by mutations in the CTNS gene encoding for the carrier protein cystinosin, transporting cystine out of the lysosomal compartment.
Defective cystinosin function leads to intra-lysosomal cystine accumulation in all body cells and organs
All the rarefying diseases included here represent a disruption of bone homeostasis that may result from an imbalance among the factors noted or a direct influence of a disese process on the bone itself.
HYPERPARATHYROIDISM
OSTEOPOROSIS
OSTEOMALACIA
LEUKEMIA
LANGERHANS CELL DISEASE
PAGETS DISEASE
MULTIPLE MYELOMA
Macroeconomics- Movie Location
This will be used as part of your Personal Professional Portfolio once graded.
Objective:
Prepare a presentation or a paper using research, basic comparative analysis, data organization and application of economic information. You will make an informed assessment of an economic climate outside of the United States to accomplish an entertainment industry objective.
Francesca Gottschalk - How can education support child empowerment.pptxEduSkills OECD
Francesca Gottschalk from the OECD’s Centre for Educational Research and Innovation presents at the Ask an Expert Webinar: How can education support child empowerment?
Biological screening of herbal drugs: Introduction and Need for
Phyto-Pharmacological Screening, New Strategies for evaluating
Natural Products, In vitro evaluation techniques for Antioxidants, Antimicrobial and Anticancer drugs. In vivo evaluation techniques
for Anti-inflammatory, Antiulcer, Anticancer, Wound healing, Antidiabetic, Hepatoprotective, Cardio protective, Diuretics and
Antifertility, Toxicity studies as per OECD guidelines
Read| The latest issue of The Challenger is here! We are thrilled to announce that our school paper has qualified for the NATIONAL SCHOOLS PRESS CONFERENCE (NSPC) 2024. Thank you for your unwavering support and trust. Dive into the stories that made us stand out!
A Strategic Approach: GenAI in EducationPeter Windle
Artificial Intelligence (AI) technologies such as Generative AI, Image Generators and Large Language Models have had a dramatic impact on teaching, learning and assessment over the past 18 months. The most immediate threat AI posed was to Academic Integrity with Higher Education Institutes (HEIs) focusing their efforts on combating the use of GenAI in assessment. Guidelines were developed for staff and students, policies put in place too. Innovative educators have forged paths in the use of Generative AI for teaching, learning and assessments leading to pockets of transformation springing up across HEIs, often with little or no top-down guidance, support or direction.
This Gasta posits a strategic approach to integrating AI into HEIs to prepare staff, students and the curriculum for an evolving world and workplace. We will highlight the advantages of working with these technologies beyond the realm of teaching, learning and assessment by considering prompt engineering skills, industry impact, curriculum changes, and the need for staff upskilling. In contrast, not engaging strategically with Generative AI poses risks, including falling behind peers, missed opportunities and failing to ensure our graduates remain employable. The rapid evolution of AI technologies necessitates a proactive and strategic approach if we are to remain relevant.
June 3, 2024 Anti-Semitism Letter Sent to MIT President Kornbluth and MIT Cor...Levi Shapiro
Letter from the Congress of the United States regarding Anti-Semitism sent June 3rd to MIT President Sally Kornbluth, MIT Corp Chair, Mark Gorenberg
Dear Dr. Kornbluth and Mr. Gorenberg,
The US House of Representatives is deeply concerned by ongoing and pervasive acts of antisemitic
harassment and intimidation at the Massachusetts Institute of Technology (MIT). Failing to act decisively to ensure a safe learning environment for all students would be a grave dereliction of your responsibilities as President of MIT and Chair of the MIT Corporation.
This Congress will not stand idly by and allow an environment hostile to Jewish students to persist. The House believes that your institution is in violation of Title VI of the Civil Rights Act, and the inability or
unwillingness to rectify this violation through action requires accountability.
Postsecondary education is a unique opportunity for students to learn and have their ideas and beliefs challenged. However, universities receiving hundreds of millions of federal funds annually have denied
students that opportunity and have been hijacked to become venues for the promotion of terrorism, antisemitic harassment and intimidation, unlawful encampments, and in some cases, assaults and riots.
The House of Representatives will not countenance the use of federal funds to indoctrinate students into hateful, antisemitic, anti-American supporters of terrorism. Investigations into campus antisemitism by the Committee on Education and the Workforce and the Committee on Ways and Means have been expanded into a Congress-wide probe across all relevant jurisdictions to address this national crisis. The undersigned Committees will conduct oversight into the use of federal funds at MIT and its learning environment under authorities granted to each Committee.
• The Committee on Education and the Workforce has been investigating your institution since December 7, 2023. The Committee has broad jurisdiction over postsecondary education, including its compliance with Title VI of the Civil Rights Act, campus safety concerns over disruptions to the learning environment, and the awarding of federal student aid under the Higher Education Act.
• The Committee on Oversight and Accountability is investigating the sources of funding and other support flowing to groups espousing pro-Hamas propaganda and engaged in antisemitic harassment and intimidation of students. The Committee on Oversight and Accountability is the principal oversight committee of the US House of Representatives and has broad authority to investigate “any matter” at “any time” under House Rule X.
• The Committee on Ways and Means has been investigating several universities since November 15, 2023, when the Committee held a hearing entitled From Ivory Towers to Dark Corners: Investigating the Nexus Between Antisemitism, Tax-Exempt Universities, and Terror Financing. The Committee followed the hearing with letters to those institutions on January 10, 202
Unit 8 - Information and Communication Technology (Paper I).pdfThiyagu K
This slides describes the basic concepts of ICT, basics of Email, Emerging Technology and Digital Initiatives in Education. This presentations aligns with the UGC Paper I syllabus.
3. Lysosome
• Function:
• Found only in cells
• Filled with enzymes for
intercellular digestion
• Waste Disposal System that
is inside of cell
• If it is not functioning
properly, there would be an
accumulation of unwanted
materials, which would lead
to the death of the cell
• Relevant Structures:
• Filled with hydrolytic and
digestive enzymes
• Spherical bag-like structure
that are bound by a single
layer membrane that
surrounds it
• The membrane acts as a
protective barrier that
protects the rest of the cell
from the enzymes that are
contained within the
lysosome.
4. Disorders of Lysosome Metabolism
• Functions of cellular organelles can be
disrupted by accumulation of a toxic
substance within the organelle or
malformation/lack of formation of the entire
organelle.
• Disorders of lysosome metabolism include:
• mucopolysaccharidoses,
• lipidoses, and
• MucoLipidosis ;ML.
5. • The mucopolysaccharidoses result from a
deficiency of degradation of acid
mucopolysaccharides leading to lysosomal
accumulation and include Hunter, Hurler, and
Sanfilippo disease.
• The lipidoses include mannosidosis and
sialidosis.
• The ML include Niemann-Pick, Krabbe, Fabry,
Gaucher, and Tay-Sachs disease.
6. Mucopolysaccharidoses
• Mucopolysaccharidoses (MPS) are lysosomal
storage disorders caused by the deficiency of
enzymes required for breakdown of
glycosaminoglycans (GAGs).
• GAGs accumulate in the lysosomes, resulting in
cellular dysfunction and clinical abnormalities.
7. Pathophysiology
• Mucopolysaccharidoses are hereditary, progressive diseases caused by
mutations of genes coding for lysosomal enzymes leading to defects in
stepwise breakdown of glycosaminoglycans (GAGs).
• Glycosaminoglycan (GAG) widely distributed in most of the tissues.
• Glycosaminoglycan (GAG) is a long-chain complex carbohydrate composed of
uronic acids, amino sugars, and neutral sugars.
• The major GAGs are chondroitin-4-sulfate, chondroitin-6-sulfate, heparan
sulfate, dermatan sulfate, keratan sulfate, and hyaluronan.
8. • These substances are synthesized and, with the exception of
hyaluronan, linked to proteins to form proteoglycans, major
constituents of the ground substance of connective tissue, as well
as nuclear and cell membranes.
• Failure of this degradation due to absent or grossly reduced
activity of mutated lysosomal enzymes results in the
intralysosomal accumulation of GAG fragments
Pathophysiology
9. • Distended lysosomes accumulate in the cell, interfere with cell
function, and lead to a characteristic pattern of clinical, radiologic,
and biochemical abnormalities.
• Within this pattern, specific diseases can be recognized that evolve
from the intracellular accumulation of different degradation
products.
• As a general rule, the impaired degradation of heparan sulfate is
more closely associated with mental deficiency and the impaired
degradation of dermatan sulfate, chondroitin sulfates, and keratan
sulfate with mesenchymal abnormalities.
Pathophysiology
10. Mode of Inheritance
• Mucopolysaccharidoses are
autosomal recessive disorders,
with the exception of Hunter
disease, which is X-linked
recessive.
• Their overall frequency is between
3.5/100,000 and 4.5/100,000.
• The most common subtype is MPS-
III, followed by MPS-I and MPS-II.
12. Classification
• According to their dominant clinical features MPSs can be
grouped into four broad categories:
– Soft tissue storage and skeletal disease with or without brain disease
(MPS I, II, VII).
– Soft tissue and skeletal disease (MPS VI)
– Primarily skeletal disorders (MPS IVA, IVB)
– Primarily central nervous system disorders (MPS III A-D)
13. Clinical Presentation
• The mucopolysaccharidoses share many clinical
features but have varying degrees of severity depending
on the mucopolysaccharidosis subtype.
• These features may not be apparent at birth but
progress as storage of glycosaminoglycans increases
with time affecting bone, skeletal structure,
connective tissues, and brain and internal organs.
15. Findings from examination may include the following:
• MPS IH – Corneal clouding,
hepatosplenomegaly, skeletal
deformities (dysostosis
multiplex), coarse facial features,
large tongue, prominent
forehead, joint stiffness, and
short stature; upper airway
obstruction, recurrent ear
infections, noisy breathing, and
persistent nasal discharge;
hirsutism, hearing loss,
hydrocephalus, and mental
retardation
• MPS I-H/S - Milder features;
normal intelligence and
micrognathia; corneal clouding,
joint stiffness, and heart disease
• MPS IS - Aortic valve disease,
corneal clouding, and joint
stiffness; normal intelligence and
stature
16. Findings from examination may include the following:
• MPS II (severe) – Pebbly ivory
skin lesions on the back, arms,
and thighs; coarse facial features,
skeletal deformities, and joint
stiffness; retinal degeneration
with clear cornea and
hydrocephalus, mental
retardation, and aggressive
behavior
• MPS II (mild form) – Similar
features, but with much slower
progression; normal intelligence
and no hydrocephalus; hearing
impairment and loss of hand
function
17. • MPS III – The most common MPS
disorder; severe central nervous
system (CNS) involvement and
only minimal somatic
involvement; coarse hair,
hirsutism, mild
hepatosplenomegaly, and
enlarged head; occasionally, mild
dysostosis multiplex and joint
stiffness; eventually, by age 8-10
years, profound retardation with
severely disturbed social behavior
• MPS IV (severe) – Orthopedic
involvement (eg,
spondyloepiphyseal dysplasia) as
the primary finding; preservation
of intelligence; genu valgum,
short stature, spinal curvature,
odontoid hypoplasia, ligamentous
laxity, and atlantoaxial instability
• MPS IV (mild) – Much slower
progression of skeletal dysplasia
• MPS VI – Features very similar to
MPS IH
• MPS VII – Features similar to MPS
IH
Findings from examination may include the following:
18. Diagnosis
• Clinical feature: MPS disorder should be suspected in a child with
coarse facial features, bone disease, developmental delay, short
stature, hepatosplenomegaly, corneal clouding.
• GAG concentration: Measurement of urinary GAG concentration,
electrophoresis.
• Enzyme activity assay: The definitive diagnosis of MPS
requires of, usually in peripheral blood leukocytes
• Prenatal diagnosis: Offered for selected family
19. • Imaging studies that may be warranted are as
follows:
• Plain radiography (to detect dysostosis multiplex)
• Computed tomography (CT) of the cranium (to help
diagnose hydrocephalus)
• Echocardiography (to monitor ventricular function and
size in MPS patients with cardiovascular disease)
• Other tests to be considered are as follows:
• Hearing assessment (Audiologic assessment)
• Ophthalmologic examination (Electroretinography).
20. Dysostosis multiplex
• Dysostosis multiplex refers to a constellation of skeletal
abnormalities in MPS conditions diagnosed based on plain
radiographs. Dysostosis multiplex is classic in Hurler syndrome .
These findings include the following:
• Large skull with thickened calvaria, premature suture closure, j-
shaped sella turcica, and shallow orbits
• Abnormal spacing of teeth.
• Short, thickened and irregular clavicles
• Short, wide, and trapezoid shaped phalanges
• Oar-shaped ribs
• Anterior hypoplasia of the lumbar vertebrae with kyphosis
• Poorly formed pelvis with small femoral heads and coxa valga
• Enlarged diaphyses of long bones and irregular metaphyses
21. Dysostosis multiplex In patient with MPS type VI:
A, B) hands of patients at the age of 7 and 16 years : deformity and shortening
of metacarpal bones.
C, D) the spine of patient at the age of 11 and 16 years : scoliosis, abnormal shape
of the vertebral bodies.
E, F) the pelvis of patients at the age of 11 and 16 years : irregular shape of the
pelvis, hypoplastic hip acetabulum, lopsided head of hip bones.
22. RECOGNITION PATTERN OF MUCOPOLYSACCHARIDOSES
MANIFESTATIONS
MUCOPOLYSACCHARIDOSIS TYPE
I-H I-S II III IV VI VII
Mental deficiency + – ? + – – ?
Coarse facial features + (+) + + – + ?
Corneal clouding + + – – (+) + ?
Visceromegaly + (+) + (+) – + +
Short stature + (+) + – + + +
Joint contractures + + + – – + +
Dysostosis multiplex + (+) + (+) + + +
Mucopolysacchariduria + + + + + + +
23. Management
Treatment of Manifestations:
Supportive management can improve the quality of life
for affected individuals and their families.
Skeletal manifestation : Physical therapy is a critical aspect of
MPS therapy, range of motion exercises appear to offer some
benefits in preserving joint function.
24. Enzyme-replacement therapy (ERT):
• Currently (ERT) available for MPS type I ,II and VI.
• The therapeutic products laronidase (for MPS I), idursulfase (for MPS II) and
galsulfase (for MPS VI .
• It reduces organomegaly and ameliorates rate of growth, joint mobility, and
physical endurance. It also reduces the number of episodes of sleep apnea
and urinary GAG excretion.
• The enzymes do not cross the blood-brain barrier and do not prevent
deterioration of neurocognitive involvement. Consequently, this therapy is
the domain for patients with mild central nervous involvement.
• To stabilize extraneural manifestations, it is also recommended in young
patients before stem cell transplantation.
• The combination of enzyme replacement therapy and early stem cell
transplantation may offer the best treatment.
Management
25. Management
Hematopoietic Stem Cell Transplantation (HSCT)
• (HSCT) procedure carries a high risk of morbidity and mortality
Pulmonary and cardiac complications post-HSCT appear to be significant
• Despite the high risk of procedure, HSCT has been successful in reducing
the progression of some findings in children with severe MPSI
• Successful HSCT reduces facial coarseness, and hepatosplenomegaly,
improves hearing, airway obstruction and maintains normal heart function.
26. Surgical care for specific conditions may include the following:
• Hydrocephalus – Ventriculoperitoneal shunting
• Corneal clouding – Corneal transplantation
• Cardiovascular disease – Valve replacement
• Obstructive airway disease – Tracheostomy
• Orthopedic conditions – Carpal tunnel release; soft tissue procedures to
release hip, knee, and ankle contractures; hip containment surgeries;
corrective osteotomy for progressive valgus deformity at the knee;
posterior spinal fusion
27. • Multispecialty care is mandatory for these patients and
should include:
• pediatrician (internist),
• neurologist,
• cardiologist,
• ophthalmologist,
• audiologist,
• orthopedic surgeon, and a physical and
• occupational therapist.
28. Complications
• Complications of mucopolysaccharidosis
include the following:
• Hearing loss
• Joint stiffness
• Hydrocephalus
• Corneal clouding
• Cardiovascular disease
• Obstructive airway disease