SNP Shot: Genomic Insights

Hypomagnesemia with secondary hypocalcemia is a genetic disorder where the body struggles to absorb and maintain magnesium from food. This leads to dangerously low magnesium levels in the blood, a condition known as hypomagnesemia.

Low magnesium interferes with the function of the parathyroid glands, small glands in the neck responsible for regulating calcium levels. These glands normally release parathyroid hormone to raise blood calcium when it's low. However, magnesium is crucial for parathyroid hormone production and release. Therefore, hypomagnesemia results in insufficient parathyroid hormone and consequently, reduced blood calcium (hypocalcemia). The hypocalcemia is termed "secondary" because it's a direct result of the magnesium deficiency.

The lack of magnesium and calcium can trigger neurological issues in infants, such as painful muscle spasms (tetany) and seizures. Without treatment, hypomagnesemia with secondary hypocalcemia can lead to developmental delays, intellectual disability, failure to thrive (poor weight gain and growth), and even heart failure.

Inheritance:

The inheritance pattern of this condition is autosomal recessive. This means that an individual must inherit two copies of the mutated gene, one from each parent, to develop the condition. While each parent carries one copy of the mutated gene, they usually don't exhibit any symptoms themselves.