Staff reporter, with staff writerResearchers at Mackay Memorial Hospital have lowered the average age of diagnosis for mucopolysaccharidosis type IVA (MPS IVA), a rare congenital disease that is difficult to diagnose, from 4.3 years to only two months.
According to primary author Lin Hsiang-yu (林翔宇), who chairs the MacKay Memorial Hospital’s International Rare Disease Center, MPS IVA is a rare lysosomal storage disorder arising from a deficiency in N-acetylgalactosamine 6-sulfatase.
The disorder results in a buildup of mucopolysaccharides and irreversible damage to bones and organs.
Photo courtesy of Mackay Memorial Hospital
Lin said that people with MPS IVA, also known as Morquio syndrome, usually have a life expectancy of 10 years.
Morquio syndrome is progressive and challenging to detect during infancy and can only be diagnosed after the buildup of mucopolysaccharide as the child ages, at which point the symptoms — such as shortness of the neck, pectus carinatum (also known as “pigeon breast”), malformed bones, movement disorders or breathing problems — are irreversible, Lin said.
Working with the Taipei Institute of Pathology and the Taipei-based Chinese Foundation of Health, Lin’s team tested 264,843 newborns for mucopolysaccharide levels from September 2019 to October 2022.
The tests found 95 suspected cases, of which nine were confirmed to have MPS IVA, or a rate of 3.4 cases per 100,000 infants.
The team extracted infants’ blood from their heel to test enzymatic activity. If the activity did not reach critical value, the infant was run through more tests: a blood test, urine tests, an X-ray, an ultrasound and genetic tests, Lin said.
The screening method allowed doctors to diagnose whether infants have Morquio at two months, enabling them to undergo early enzyme replacement therapy (ERT) and hematopoietic stem cell transplantation (HSCT) treatments, he said.
Early diagnosis and treatment are critical to treating Morquio, as it prevents the syndrome from causing irreversible damage to the patient’s organs, he said.
The hospital has treated 11 people with Morquio with ERT since 2011, significantly improving their joint functions and allowing them greater mobility while strengthening their lung capacity and preventing obstructive sleep apnea, he added.
The screening was the first in the world, and the paper’s results were of great interest to international researchers, adding that the US also intended to include MPS IVA as part of standard newborn infant screenings, he said.
The findings were submitted to the Genetics in Medicinejournal for next month’s issue, which is to publish them under the title “Implementation of newborn screening for mucopolysaccharidosis type IVA and long-term monitoring in Taiwan.”
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