Maroteaux–Lamy syndrome
Maroteaux–Lamy syndrome | |
---|---|
Other names | Mucopolysaccharidosis type VI, ASRB gene |
Differential diagnosis | Other mucopolysaccharidosis disorders |
Prognosis | Reduced life expectancy |
Maroteaux–Lamy syndrome, or
Signs and symptoms
Unlike other MPS diseases, children with Maroteaux–Lamy syndrome usually have normal intelligence.
At birth, people with Maroteaux–Lamy syndrome typically do not display any signs or symptoms.
Genetics
This disorder is inherited in an
Diagnosis
A urinalysis will show elevated levels of dermatan sulfate in the urine. A blood sample may be taken to assess the level of ASRB activity. Dermal fibroblast cells may also be examined for ASRB activity. Molecular genetic testing can give information about the specific mutation causing MPS-VI, but it is only available at specialized laboratories.[6]
Treatment
The treatment of Maroteaux–Lamy syndrome is symptomatic and individually tailored. A variety of specialists may be needed. In 2005, the
In addition to ERT, various procedures can alleviate the symptoms of MPS-VI. Surgery may be necessary to treat abnormalities such as carpal tunnel syndrome, skeletal malformations, spinal cord compression, hip degeneration, and hernias. Some patients may need heart valve replacement. It may be necessary to remove the tonsils and/or adenoids. Severe tracheomalacia may require surgery. Physical therapy and exercise may improve joint stiffness.[citation needed]
Hydrocephalus may be treated by the insertion of a shunt to drain excess cerebrospinal fluid. A corneal transplantation can be performed for individuals with severe corneal clouding. A myringotomy, in which a small incision is made in the eardrum, may be helpful for patients with fluid accumulation in the ears. Hearing aids may be useful, and speech therapy may help children with hearing loss communicate more effectively.[citation needed]
Certain medications can be used to treat heart abnormalities, asthma-like episodes, and chronic infections associated with MPS-VI. Anti-inflammatory medications may be of benefit. Respiratory insufficiency may require treatment with supplemental oxygen. Aggressive management of airway secretions is necessary as well.
Prognosis
The life expectancy of individuals with MPS VI varies depending on the severity of symptoms. Without treatment, some individuals may survive through late childhood or early adolescence. People with milder forms of the disorder usually live into adulthood, although they may have reduced life expectancy.
Epidemiology
Males and females are affected equally.[6] Studies have shown a birth prevalence between 1 in 43,261 and 1 in 1,505,160 live births. These numbers are likely an underestimate of the true number of cases, because newborn screening for MPS-VI is not widely available. Although studies have not revealed an ethnic predisposition, certain groups with a high degree of consanguinity have a higher prevalence of MPS-VI. For example, one study of a population of Turkish immigrants in Germany revealed that this group had a rate of 1 in 43,261; this was approximately ten times higher than the rate of MPS-VI in non-Turkish Germans. In different populations worldwide, MPS-VI made up between 2 and 18.5% of all MPS disorders.[7]
History
It is named after Pierre Maroteaux (1926–2019) and his mentor Maurice Emil Joseph Lamy (1895–1975), both French physicians.[8][9]
Society and culture
Keenan Cahill was a YouTuber with Maroteaux–Lamy syndrome.[10] He died on December 29, 2022, following open-heart surgery two weeks earlier.[11]
Isabel Bueso, a Guatemalan woman with Maroteaux–Lamy syndrome who has been receiving treatment at UCSF Benioff Children's Hospital, was at risk of deportation from the United States after the Trump administration ended the deferred action program in August 2019.[12] In December 2019, she was granted another deferral of two years.[13] In December 2022, she was granted permission to stay in the U.S. permanently.[14]
See also
- Hurler syndrome (MPS I)
- Hunter syndrome (MPS II)
- Sanfilippo syndrome (MPS III)
- Morquio syndrome (MPS IV)
References
- ISBN 978-1-4160-2999-1.
- ^ a b c "Mucopolysaccharidosis type VI". United States National Library of Medicine. 11 June 2019. Retrieved 17 June 2019.
- PMID 18406185.
- ^ a b "Mucopolysaccharidosis type VI". MedlinePlus. Retrieved 25 February 2023.
- ^ "Mucopolysaccharidoses Fact Sheet". National Institute of Neurological Disorders and Stroke. 13 May 2019. Retrieved 17 June 2019.
- ^ a b c d Giugliani, Roberto (2017). "Maroteaux Lamy Syndrome". National Organization for Rare Disorders. Retrieved 23 June 2019.
- PMID 20385007.
- Who Named It?
- PMID 14091597.
- ^ Cary, Joan (5 May 2011). "Elmhurst teen a YouTube lip-syncing sensation". Chicago Tribune. Retrieved 23 June 2019.
- ^ Hooever, Jeff (December 30, 2022). "Beloved YouTube star Keenan Cahill dies at age 27". WGN. Retrieved December 30, 2022.
- ^ "Disabled Concord woman from Guatemala fights to stay in the U.S. - SFChronicle.com". www.sfchronicle.com. 2019-09-06. Retrieved 2019-09-06.
- ^ "Critically-ill Concord woman slated for deportation will remain in the U.S." SFChronicle.com. 2019-12-09. Retrieved 2019-12-09.
- ^ Mercader, Rachel Heimann (29 December 2022). "Concord woman with rare disease who faced deportation allowed to stay in U.S. permanently". The Mercury News. Retrieved 31 December 2022.