Hurler Syndrome – Causes, Symptoms, Diagnosis & Homeopathy Treatment

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Dr. Vaseem Choudhary M.D
Hurler Syndrome

Hurler syndrome, also referred as Mucopolysaccharidosis type I-Hurler, MPS I-H, is a genetic disorder that falls under the category of lysosomal storage diseases.

What is Hurler Syndrome?

It is a rare genetic disorder resulting from a lack of the enzyme alpha-L-iduronidase.

This enzyme should be responsible for breaking down complex carbohydrates known as glycosaminoglycans (GAGs) (previously referred to as mucopolysaccharides).

Without this enzyme, GAGs build up within cells, blood, and connective tissue and result in progressive organ and tissue damage.

Hurler Disease Symptoms

  • Physical: Coarsened facial appearance, macroglossia (large tongue), large head, broad nose, thick lips
  • Skeletal: Short stature, stiff joints, unusual bones (dysostosis multiplex)
  • Neurological: Developmental delay, progressive mental retardation, hydrocephalus
  • Other: Enlarged liver and spleen, opacification of cornea (clouding of cornea), hearing loss, frequent pulmonary infections, valvular heart disease

Onset & Progression:

Symptoms typically appear in infancy (within 1 year of life).

It is progressive, i.e., symptoms aggravate with increasing age if left untreated.

If left untreated, life expectancy typically is prior to adolescence, primarily due to heart or respiratory complications.

Inheritance:

Autosomal recessive condition → both parents have to be carriers of the defective gene for the child to be affected.

Diagnosis:

Clinical signs & symptoms

Enzyme assay (to identify alpha-L-iduronidase activity)

Genetic testing (to confirm IDUA gene mutations)

Urine tests (show high mucopolysaccharides/GAGs)

Treatment:

Enzyme Replacement Therapy (ERT): Laronidase (Aldurazyme®) reduces non-neurological symptoms.

Hematopoietic Stem Cell Transplant (HSCT): Can halt disease progression, particularly if undertaken early.

Supportive care: Physical therapy, surgeries (for heart, joints, airway), vision/hearing aids.

Homeopathic Remedies for Hurler Syndrome

  1. Calcarea carbonica

Used in delayed milestones, bone and joint weakness, poor growth, susceptibility to catching cold.

  1. Baryta carbonica

For slow development, learning disability, frequent throat infections, poor immunity.

  1. Calcarea phosphorica

For faulty bone development, loose joints, and slow healing.

  1. Silicea

For frequent infections, poor constitution, slow growth.

  1. Tuberculinum (constitutional remedy)

For poor immunity children with frequent respiratory infections and developmental delay.

FAQ’s for Hurler Syndrome:

Q1. What is Hurler Syndrome?

Hurler syndrome (MPS I-H) is an autosomal rare genetic disorder due to deficiency of the enzyme alpha-L-iduronidase, resulting in accumulation of glycosaminoglycans (GAGs) in the body.

Q2. How is Hurler Syndrome inherited?

It is inherited autosomal recessively, thus both parents must be carriers of the defective gene so that a child may become affected.

Q3. What are the main symptoms of Hurler Syndrome?

Coarse facial features

Large head, thick lips, broad nose, big tongue

Skeletal deformities & stiffness of joints

Mental retardation & delayed development

Clouding of cornea (opacity of the eyes)

Enlargement of liver & spleen

Heart & respiratory illness

Q4. At what age does the symptom typically manifest?

Symptoms typically manifest in infancy or at a few months of age and develop worsening gradually if untreated.

Q5. How is Hurler Syndrome diagnosed?

Clinical evaluation & symptom detection

Enzyme test (assay for alpha-L-iduronidase activity)

Genetic testing (mutation in IDUA gene)

Urinalysis (glycosaminoglycan buildup)

Q6. What are the treatments for Hurler Syndrome?

Enzyme Replacement Therapy (ERT): Laronidase (Aldurazyme®)

Hematopoietic Stem Cell Transplant (HSCT): Preferably early in life

Supportive therapies: Surgery, physiotherapy, hearing/vision aids, cardiac & respiratory care

Q7. What is life expectancy with Hurler Syndrome?

Untreated children can survive only up to the adolescent years because of cardiac or respiratory complications. In combination with timely HSCT and ERT, life expectancy and quality can be considerably enhanced.

Q8. What is the difference between Hurler Syndrome and Hunter Syndrome?

Hurler syndrome (MPS I-H) is due to deficiency of the enzyme alpha-L-iduronidase

It is autosomal recessive, i.e., both the parents should be carriers.

It is most commonly present at birth and more severe with features such as clouding of the cornea of the eyes.

Hunter syndrome (MPS II), on the other hand, results from deficiency of the enzyme iduronate-2-sulfatase

It is X-linked recessive, so it occurs primarily in males.

Symptoms usually start in early childhood, run more slowly, and do not include corneal clouding as seen in Hurler syndrome.

Start your journey towards better focus today.

Homeo Care Clinic offers a holistic approach to treating the disease. The remedies mentioned above can treat the underlying causes of the condition and offer relief from the discomfort. However, it is important to consult a qualified homeopathic practitioner for the correct dosage and duration of treatment. Homeo Care Clinic provides comprehensive care for various ailments, and offers customized treatment plans based on individual requirements.

To schedule an appointment or learn more about our treatment, please visit our website or give us a call +91 9595211594 our best homeopathy doctor will be here to help.

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About the Author Bio:
Dr. Vaseem Choudhary, is a seasoned classical homeopath with over 16 years of experience, dedicated to treating patients with compassion, precision and holistic care. Mainly in Pune & Mumbai, serving both national and international patients from UK, USA, Germany, France, Canada, Bhutan, Dubai & China. With a wide range of acute and chronic conditions—from skin disorders, hormonal issues, and digestive problems to autoimmune diseases and mental health concerns.

Dr. Vaseem is widely respected for his unique approach that combines classical homeopathy, personalized diet planning, lifestyle guidance, and a spiritual perspective on healing. He is known for his detailed and empathetic case-taking process, which focuses on treating the root cause rather than just symptoms.

In recognition of his dedication and clinical excellence, Dr. Vaseem has been honored with the Best Homeopathic Doctor in Pune award by leading platforms such as:

  • Hindustan Times
  • National Health Care Awards
  • Punekar News Health Excellence Forum

He is also a contributing author to the International Journal of Homeopathy and Natural Medicines (IJHNM), where he shares his research and clinical experiences with the global medical community.

With a passion to take homeopathy to new heights, Dr. Vaseem continues to guide patients towards natural, safe, and sustainable healing.

Source

https://en.wikipedia.org/wiki/Hurler_syndrome