Now Reading: Rare MADD gene disorder identified in Bengaluru child
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Rare MADD gene disorder identified in Bengaluru child
An 8-year-old girl weighing only 8.4 kg and measuring 81 cm in height has been diagnosed with India's first reported case of a MADD-related genetic disorder at Bengaluru's Indira Gandhi Institute of…
An 8-year-old girl weighing only 8.4 kg and measuring 81 cm in height has been diagnosed with India's first reported case of a MADD-related genetic disorder at Bengaluru's Indira Gandhi Institute of Child Health (IGICH). The child, who had suffered from poor growth, developmental delays, recurrent infections and breathing problems since infancy, was found to carry a pathogenic mutation in the MADD gene after whole-genome sequencing.
The case, published in the journal Clinical Dysmorphology, revealed several previously unreported features of the disorder, including leukodystrophy-like brain changes, an underdeveloped pancreas, delayed tooth eruption and medullary nephrocalcinosis. The child also had hypothyroidism, growth hormone deficiency and diabetes insipidus. Doctors have started her on thyroid hormone replacement, growth hormone therapy and desmopressin, and report significant improvement.
Indian Opinion Analysis
MADD-related disorders are among the rarest genetic conditions globally, with fewer than a few dozen cases documented in medical literature. The discovery in a state-run hospital highlights the growing diagnostic capability of genome sequencing in India, which can end years of uncertainty for families of children with multi-system unexplained illnesses. The child's unusual brain changes may prompt further research into whether they stem directly from the MADD mutation or from long-untreated hypothyroidism. Doctors will continue to monitor her response to hormone therapies and watch for any new complications.
Source: timesofindia.indiatimes.com
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