MPS in children can diminish life-span
On MPS Awareness Day, doctors point to the need for government intervention and encouraging research, specialisation and setting up of diagnostic and treatment facilities for this rare genetic disorder which affects around 3-4 crore children worldwide. Mucopolysaccharidoses (MPS) is the most common among 45 rare genetic disorders called Lysosomal Storage Disorders (LSD), that occur due to deficiency of specific enzymes in special compartments (lysosomes) of cells. Diseases like Gaucher, Pompe, Fabry, and MPS are categorised as LSDs.
The disorder causes permanent, progressive and life-threatening cellular damage that affects appearance, physical abilities, organ functioning, and mental orientation; and diminishes life span in children. Dr Ashwin Dalal, head of diagnostics at the Centre for DNA Fingerprinting (CDFD), which is collaborating with the medical genetics unit of Nizam’s Institute of Medical Sciences, said, “We get around three or four children with MPS per month. Considering the population of India, MPS, which has six sub-groups, is found in roughly one in 25,000 people, while LSD is observed in one in 5,000 persons. It’s observed more among those practising consanguineous weddings.”
Dr Dalal says that though early diagnostic facilities, even in the foetus, are available in India, treatment options are few. The imported enzyme replacement therapy costs Rs 1-2 lakh a month while bone marrow transplant is risky. Dr Radha Rama Devi, a city paediatrician, said that symptoms include developmental delay, movement disorders, seizures, dementia, behavioural disorders, coarse facial features, corneal clouding, multiple skeletal anomalies and curving of the spine besides enlargement of the liver and spleen.
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