# Rare MADD gene disorder identified in Bengaluru child 2026-08-20T18:59:50+00:00 | Health & Science | Indian Opinion Desk Corroboration: 1 independent outlet 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. ## Coverage - timesofindia.indiatimes.com Purely factual reporting of a medical case study without editorialising or attributing blame. This story was synthesised by AI from the source linked above. Tags: Bengaluru, Indira Gandhi Institute of Child Health, MADD gene Canonical: https://indianopinion.org/rare-madd-gene-disorder-identified-in-bengaluru-child/ License: Summary and commentary (c) Indian Opinion, reusable with attribution. Facts belong to the linked sources. Cite: https://indianopinion.org/rare-madd-gene-disorder-identified-in-bengaluru-child/#story-in-brief Review state: restored archive article, accurate at time of publication, not offered to search indexes. How this brief was made: an AI model read the report linked above and wrote this summary and analysis, which were published automatically. Published briefs are sampled every hour by an automated quality check; the editor verifies its findings and approves corrections, and corrected briefs carry a dated correction line. We do no original reporting. Methodology: https://indianopinion.org/ai-use-policy/