Table 4.
Examples of genetic disorders responsible for causing magnesium deficiency along with genes involved
| Diseases | Affected genes | Features |
|---|---|---|
| Familial hypomagnesemia with hypercalciuria and nephrocalcinosis type 1 (FHHNC1) | Claudin 16 (CLDN16) | Renal magnesium and calcium wasting, nephrocalcinosis and hypomagnesemia |
| Familial hypomagnesemia with hypercalciuria and nephrocalcinosis type 2 (FHHNC2) | Claudin 19 (CLDN16) |
Severe hypomagnesemia accompanied with nephrocalcinosis. and hypercalciuria Ocular defects such as significant myopia, macular colobomata, and horizontal nystagmus |
| Hypomagnesemia with secondary hypocalcemia (HSH) | Transient receptor potential melastatin type 6 (TRPM6) | Low levels of calcium and magnesium in serum leading to neurological and muscular complication |
| Isolated autosomal recessive hypomagnesemia (IRH) | Epidermal growth factor (EGF) | Declined serum and urine magnesium level, Seizure precipitation and psychomotor retardation |
| Autosomal dominant hypomagnesemia (ADH) | KCNA1 | Muscle cramps, weakness, tetanic episodes, and tremor. Reduced serum magnesium level |
| Hypomagnesemia with seizures and mental retardation (HSMR) | Cyclin M2; CNNM2 | Reduced serum magnesium level without affecting other electrolytes seizures, loss of consciousness, loss of muscle tone, headaches and staring |
| Seizures, sensorineural deafness, ataxia,mental retardation, and electrolyte imbalance/epilepsy, ataxia, sensory neural deafness and renal tubulopathy syndrome | KCNJ10 | Patients experiences electrolyte imbalance with hypokalemic metabolic alkalosis, severe hypomagnesemia, renal Na+, K+ and Mg2+ wasting |
| Isolated dominant hypomagnesemia (IDH) | FXYD domain containing ion transport regulator 2 (FXYD2) | Convulsions and hypomagnesemia |
| Renal cysts and diabetes syndrome (RCAD) | Hepatocyte nuclear factor 1B HNF1B | Hypomagnesemia, renal cyst genital and pancreatic abnormalities |
| Transient neonatal hyperphenyalaninemia and high urinary levels of primapterin HPABH4D | Pterin-4-alpha-carbinolamine dehydratase; PCBD1 | Hypomagnesemia, renal Mg2+ wasting, maturity-onset diabetes of the young(MODY5)-like diabetes |
| Gitelman’s syndrome | SLC, solute carrier; SLC12A3 | Hypomagnesemia and hypokalemia are the cardinal symptoms with tetany, paresthesias, and chondrocalcinosis |
| Bartter’s syndrome type 1 | SLC, solute carrier; SLC12A1 | Salt wasting, elevated plasma renin, aldosterone levels,hypokalemic alkalosis and low BP |
| Bartter’s syndrome type 2 | KCNJ1 | |
| Bartter’s syndrome type 3 | CLCNKB | |
| Bartter’s syndrome type 4 | BSND | |
| Kearns–Sayre syndrome | Mitochondrial deletion | Retinopathy, external ophthalmoplegia and cardiac conduction defects |