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Indian Express
03 April 2010
By Shubhlakshmi Shukla
Ahmedabad, India

ICMR and FRIGE have developed a baseline study for efficient and early clinical diagnosis of storage metabolic disorders that occur due to the genetic aberration (generally found in new–born babies). Because of genetic disorders, there is an excessive storage of protein and lipids leading to further complications in newborn babies
When the parents of two–yearold Juveria Banu Shaikh from Kalupur area of Ahmedabad noticed a swelling in her stomach, they thought it could be because of worms. However, Juveira’s condition deteriorated as the time passed. Later, her parents discovered that she suffered from a genetic disorder known as Gaucher.

Thanks to a baseline study developed by the Indian Council of Medical Research (ICMR) and Ahmedabad–based Foundation for Research in Genetics and Endocrinology (FRIGE), doctors could diagnose Juveira’s disorder early.

ICMR and FRIGE have developed a baseline study for efficient and early clinical diagnosis of storage metabolic disorders that occur due to the genetic aberration (generally found in new–born babies a few days after their birth). Because of genetic disorders, there is an excessive storage of protein and lipids leading to further complications in newborn babies.

The study carried out between December 2006 and December 2009 was conducted on 566 children in the age range of 1 day to 19 years. The babies were selected from Gujarat, Maharashtra and Southern India.

The study has recently been submitted to the ICMR. The study revealed that 35.8 per cent of the babies tested had liver enlargement, skeletal and facial abnormalities in their early childhood. Gaucher disease which leads to rupture of spleen and causes other complications like neural impairment or bone crisis is one of the common diseases found in Western India.

Jayesh Sheth of FRIGE, the principal investigator, said: “In most of these genetic disorders, children are erroneously diagnosed with thalassemia. The reason for this is swelling in the stomach in the early stages of both the diseases.” “The aim of the study is to stop wrong diagnosis. The base line study might serve as a ready–reckoner for doctors (mainly paediatricians). The latest study defines the standard methods of PNDTs tests to screen the metabolic disorders,” said Sheth.

From this year onwards, the ICMR is supporting FRIGE to study the causes of these genetic aberrations. Besides Gauchar, the study has found occurrence of 17 other metabolic disorders diagnosed in the newborn babies from Gujarat, Maharashtra and also in Andhra Pradesh and Tamil Nadu.

‘The screening of storage metabolism in new–born babies is the thrust area. A medical practitioner in his career might not have come across such disorders. He or she might misdiagnose the metabolic diseases found generally in infants,’ said Sheth.

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