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Hunter Syndrome and Hurler Syndrome
by Alike Medical Team ∙ Updated on June 13, 2023
This group contains additional names: - Mucopolysaccharidosis II - MPS II - Mucopolysaccharidosis
Hunter Syndrome is a rare genetic metabolic disorder, also called mucopolysaccharidosis II or MPS II. People who suffer from Hunter syndrome do not produce enough enzyme called iduronate 2-sulfatase. The enzyme task is to break complex sugar molecules, resulting in accumulation of these molecules, which leads to organ damage. The affected organs may include the bones, tendons and brain. The result of this condition results in permanent, progressive damage affecting appearance, mental development, organ function and physical abilities. The condition is passed along in the X-linked inheritance pattern, meaning it nearly always occurs in males. T Symptoms may vary, depending on the severity of the disease, but symptoms usually start between the ages 2-4. Hunter syndrome complications may include respiratory complications such as chronic ear and sinus infections, respiratory infections, pneumonia, sleep apnea. Cardiac complications may include heart valve defect, heart failure, aortic narrowing and elevated blood pressure. Skeletal and connective tissue complications may include growth delay, pain, physical malformation, stiffness,irregularly shaped vertebrae and spines, ribs, arms, fingers, legs, and pelvises and hernias. Nervous system complications may include vision problems, headaches, mental state alterations, hyperactivity, behavioral problems and seizures. Hurler syndrome is a rare genetic lysosomal storage disease, and it is the most severe form of mucopolysaccharidosis 1. People who suffer from Hunter syndrome do not produce any enzyme called alpha-L-iduronidase resulting in accumulation of dermatan sulfate and heparan sulfate, which leads to organ damage. The affected organs may include the bones, heart, lungs and brain. The result of this condition results in permanent, progressive damage affecting appearance, mental development, organ function and physical abilities. The condition is transmitted in autosomal recessive inheritance pattern. Symptoms may vary, depending on the severity of the disease, but symptoms usually start in the first year of life. Hurler syndrome complications may include respiratory complications, cardiac complications such as valvular abnormalities and cardiomyopathy, heart failure. Skeletal complications may include growth delay, pain, physical malformation, stiffness and irregularly shaped vertebrae and spines. Nervous system complications may include developmental delay and hydrocephalus. Hunter syndromes distinguished from Hurler syndrome by an X-linked recessive inheritance, longer survival, lack of corneal clouding, the characteristic papulonodules, and the different biochemical defect.
0 people with Hunter Syndrome and Hurler Syndrome
Both syndromes symptomes may include an enlarged head, prominent frontal bones, elongated skull, lips thickening, broad nose, flared nostrils, protruding eyes, bone abnormalities, carpal tunnel syndrome, joint stiffness, distended abdomen, inguinal and umbilical hernias, clouding of the cornea, retinal generation, chronic diarrhea, aortic valve disease, and delayed motor and speech development.
Diagnosis of both syndromes may begin with noticing changes in facial features. As the disease is progressive and not all symptoms occur at once, a definite diagnosis might take time. A urine sample may search for enzyme deficiency or for excess presence of complex sugar molecules. Definite diagnosis can be done in genetic testing. Prenatal screening is also available through chorionic villus sampling or amniocentesis.
There is no cure for these syndromes . Enzyme replacement therapy (ERT) may slow down the disease progression and improve some of the symptoms. It can be given to children whose brain is not affected by the disease. Stem cell transplant and gene therapy are mostly experimental. Other symptomatic treatments may include tonsils removal, breathing device, heart valve replacement, physical therapy and anticonvulsant medications. Other symptomatic treatments may include surgical intervention, physical, occupational and speech therapies, respiratory support if needed and other tailored medications and treatment.
☝ We provide information on prescription and over-the-counter medicines, diagnosis, procedures and lab tests. This material is provided for educational purposes only and is not medical advice, diagnosis or treatment.
National Institutes of Health ∙ World Health Organization ∙ MedlinePluse ∙ Centers for Disease Control and Prevention
☝ All information has been reviewed by certified physicians from Alike
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