Two- year-old Amar (name changed) was suffering from epilepsy and has been having seizures since he was a month-old baby.
Amar’s parents then consulted Dr Vivek Jain, Paediatric Neurologist at Santokba Durlabhji Memorial Hospital and Medical Research institute, Jaipur. Dr Vivek tried various anti-epileptic medicines but to his surprise none of them worked. He then approached MedGenome labs, Bangalore (genomics-based diagnostics and research lab) for doing Amar’s genetic testing.
The analysis of the test revealed Amar had magnesium deficiency and suffered from a genetic disorder, Hypomagnesemia. Magnesium is required for efficient parathyroid function and parathyroid hormone production, which is responsible for maintaining blood calcium levels. In some hypomagnesia cases, severe magnesium deficiency leads to failure of the parathyroid gland, causing low calcium levels in the blood or hypocalcemia. The disease typically manifests during the first months of life with generalized convulsions or signs of increased neuromuscular excitability, such as muscle spasms or tetany.
Hypomagnesia also occurs as a result of decreased intake, increased renal or gastrointestinal losses and altered intracellular extracellular distribution, diuretic use, alcohol use, and chronic diarrhoea. However, in Amar’s case it was due to a genetic mutation.
Thus, Dr Vivek gave him magnesium based on the genetic report and the symptoms seemed to have resolved. Hence genetic testing helped in identifying the mutation and the disease to decide the prognosis for the patient. In fact, early diagnosis and ideal treatment prevented irreversible neurological complications which may have resulted, if treatment was delayed.
Summary
- Hypomagnesia is a rare autosomal recessive disorder characterized by very low serum magnesium levels caused by a mutation in gene TRPM6.
- Autosomal recessive disorder means two copies of an abnormal gene, one maternal and one paternal, must be present for the disease or trait to develop.
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MedGenome is the leading solution provider of clinical genomics for Physicians and Healthcare providers across India and offers unmatched expertise in clinical diagnosis, carrier testing, genetic counseling and validation of inheritance pattern. Our research solutions apply cutting-edge genomics technologies, bioinformatics, computing, and big data analytics to understand the genetic basis of various disorders.
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